Abnormal Spinal Curvatures

July 16, 2014 by SF Custom Chiropractic
Abnormal Curvature of the Spine

The main purposes of the bony spine are to support the body’s weight, to provide
stability of the torso, to allow for flexibility of motion, and to protect the spinal cord.
Abnormal curvature of the spinal column’s vertebrae

may hinder or result in the inability of the spine
to carry out these functions. The spinal column is composed of 24 vertebrae. There are
7 cervical vertebrae starting at the base of the skull and spanning the neck, 12 thoracic
vertebrae located in the upper trunk of the body, and 5 lumbar vertebrae in the lower
back. The medical terminology for each of the sections is noted as C1-C7 for cervical
vertebrae, T1-T12 for thoracic vertebrae, and L1-L5 for the lumbar vertebrae. A normal
spine consists of concave and convex curvatures; however, when the curves become
too extreme or the spine begins to curve laterally in the frontal plane, painful spinal
conditions may evolve; common abnormal curvatures of the spine include kyphosis,
lordosis, and scoliosis.

Kyphosis

Kyphosis is identified by an abnormal outward curvature of the thoracic spine. This type
of spinal abnormality is most prevalent among the elderly population. People with this
specific spinal abnormality may experience difficulty with balance because it tends to
lead to an abnormal flexion of the spine. This can also increase compression and shear
forces applied to the thoracic vertebrae, resulting in constant discomfort and inhibition of
comfortable range of motion. Causes of Kyphosis can be years of poor posture such
asforward head posture, or conditions such as AS (Ankylosing Spondylitis),
Scheuermann disease or DISH (Diffuse Idiopathic Skeletal Hyperostosis).

Lordosis

Lordosis refers the the abnormal curvature of the lumbar spine. When this occurs, the
person typically experiences low back pain and muscle spasms. While it is common in
dancers and in individuals who do not lift weight properly, it is also prominent among
those who have uneven muscles between the abdominals and lower back muscles. A
combination of weak hamstrings and tight hip flexors has also been known to cause
lordosis.

Scoliosis

Scoliosis is a condition in which the spine curves laterally in the frontal plane and can
onset at any age. A cause of scoliosis is uneven muscles on either side of the spine,
uneven hips, arm, or legs, or an abnormal rib cage rotation. Secondary scoliosis can
arise from neuromuscular conditions such as spina bifida. To diagnose scoliosis, a
doctor would look to identify if the spine is greater than 10 degrees out of normal range.
Since the ribs are attached to the spine, if scoliosis is not identified early the ribs can
apply abnormal pressure on internal organs that may result in other severe health
concerns.

Treatments

If the kyphosis or lordosis hasn’t progressed too far, chiropractic and physical therapy
are both recommend to treat weakness and misalignments of the spine. However, if the
spine is 50 degrees or greater outside the normal range of curvature, surgery may be
required. At SF Custom Chiropractic, a thorough exam, including range of motion,
postural check and orthopedic tests can be administered to identify the condition of the
abnormal spinal curvature. Chiropractic therapy can slow down, stop, or even reverse
the signs of abnormal spinal curvature. Part of the treatment process includes custom
exercises and stretches that will help strengthen weaker muscles to alleviate the
unevenness.
Sources:

Briggs, A. M., Van Dieen, J. H., Wrigley, T. V., Grieg, a. M., Phillips, B., Sing Kai, L., &
Bennell, K. L.

(2007). Thoracic Kyphosis Affects Spinal Loads and Trunk Muscle Force. Physical
Therapy, 87(5), 595-607.

Arthrogryposis Multiplex
Congenita
(Multiple Congenital Contractures)

By Simeon A. Boyadjiev Boyd, MD, University of California Davis;UC Davis Children's
Hospital

Arthrogryposis multiplex congenita refers to a variety of conditions that involve congenital
limitation of joint movement. Intelligence is relatively normal except when the
arthrogryposis is caused by a disorder or syndrome that also affects intelligence.

Arthrogryposis is not a specific diagnosis but rather a clinical finding of congenital contractures;
these may be present in > 300 different disorders. Prevalence varies in different studies between
about 1/3,000 to 1/12,000 live births. The perinatal mortality for some of the underlying
conditions is as high as 32%, so establishing a specific diagnosis is important for prognosis and
genetic counseling.

Causes may involve  Physical limitation of movement (eg. In the classic manifestations of AMC. impaired fetal vascularity. muscular dystrophy) may be. multiple gestations. many of which are associated with a specific gene defect in one of a number of genes that encode components of the contractile apparatus. The spine may be scoliotic. Etiology Any condition that impairs in utero movement for > 3 wk can result in AMC. Hips may be dislocated and are usually slightly flexed. shoulders are sloped. the elbows are extended. feet are often in the equinovarus position. neuropathies. Usually intelligence is normal. myopathies. impaired uterine vascularity)  Genetic disorders affecting the fetus (eg. . anterior horn cell disease) More than 35 specific genetic disorders (eg. Symptoms and Signs Deformities are prominent at birth.  Distal arthrogryposis : The hands and feet are involved. Nearly all cases are sporadic. adducted. Many distal arthrogryposes are transmitted as autosomal dominant disorders. AMC is not progressive.There are two major types of arthrogryposis multiplex congenita (AMC):  Amyoplasia (classic arthrogryposis): Multiple symmetric contractures occur in the limbs. gastroschisis. the condition that causes it (eg. Distal arthrogryposes are a heterogeneous group of disorders. some children may have primary CNS dysfunction. and internally rotated. however. spinal muscular atrophy type I. and limbs tend to be tubular and featureless. but the large joints are typically spared. As noted. Knees are extended. bowel atresia) due to a lack of muscle formation. trisomy 18) have been linked to AMC. Physical disabilities may be severe. but intelligence is usually unimpaired. Affected muscles are hypoplastic and have fibrous and fatty degeneration. the skeleton appears normal on x-rays. Leg muscles are usually hypoplastic. due to uterine malformations. frequently associated with pulmonary hypoplasia  Maternal disorders (eg. Except for slenderness of the long bones. but x-linked mutations are known. and the wrists and digits are flexed. including muscular dystrophies. About 10% of patients have abdominal abnormalities (eg. connective tissue abnormalities. or oligohydramnios) causing fetal akinesia/hypokinesia syndrome (Pena-Shokeir syndrome). Soft- tissue webbing sometimes occurs over ventral aspects of the flexed joints. Affected joints are contracted in flexion or extension. multiple sclerosis.

Other abnormalities that rarely accompany arthrogryposis include microcephaly. cleft palate. these findings raise suspicion for an underlying chromosomal defect or genetic syndrome. and cardiac and urinary tract abnormalities. Diagnosis  Clinical evaluation  Testing for cause . cryptorchidism. Arthrogryposis Multiplex Congenita © Springer Science+Business Media Endotracheal intubation during surgery may be difficult because children have small immobile jaws.

MD. Evaluation should also include a thorough assessment for associated physical. and such patients should be evaluated for CNS disorders and monitored for progressive neurologic symptoms. Boyadjiev Boyd. The upper extremities are more commonly affected. A syndromic form of AMC is suspected when developmental delays and/or other congenital anomalies are present. Treatment  Joint manipulation and casting  Sometimes surgical procedures Early orthopedic and physical therapy evaluations are indicated. Specific disorders to be sought include Freeman-Sheldon syndrome. Testing typically starts with a chromosomal microarray analysis and followed by specific gene tests that are done individually or as a standard panel by many genetic laboratories.If a newborn has multiple contractures. In classic AMC.UC Davis Children's Hospital Limb deficiencies Congenital limb amputations and deficiencies are missing or incomplete limbs at birth. distal arthrogryposis.9/10. University of California Davis. and DiGeorge syndrome (22q11 deletion syndrome). muscle biopsy typically shows amyoplasia. . Holt-Oram syndrome. Surgery may be needed later to align the angle of ankylosis. or disruptions secondary to intrauterine destruction of normal embryonic tissues. typically. Common Congenital Limb Defects By Simeon A. Many children do remarkably well. The overall prevalence is 7. a clinical geneticist should coordinate the assessment and management. Miller syndrome. surgically moving the triceps so that it can flex the elbow) may improve function. or another syndrome where multiple contractures are associated with unrelated congenital anomalies and/or metabolic disorders. two thirds are ambulatory after treatment.000 live births. and genetic abnormalities. but mobility is rarely enhanced. When available. Larsen syndrome. practitioners from many specialties are involved. multiple pterygium syndrome. Electromyography and muscle biopsy are useful to diagnose neuropathic and myopathic disorders. Most are due to primary intrauterine growth inhibition. chromosomal. Orthotics may help. Muscle transfers (eg. the initial evaluation should determine whether the condition is amyoplasia. Joint manipulation and casting during the first few months of life may produce considerable improvement. with fatty and fibrous replacement of tissues.

such as amniotic band-related limb deficiency. thalidomide. and limb anomalies). including Adams-Oliver syndrome (aplasia cutis congenita with partial aplasia of the skull bones and terminal transverse limb malformations). or tibia). renal anomalies andradial aplasia. The most common cause of congenital limb amputations are vascular disruption defects. anal atresia. fibula. tracheo esophageal f istula. TAR syndrome ( thrombocytopenia.Congenital limb deficiencies have many causes and often occur as a component of various congenital syndromes. cardiac malformations. complete or partial absence of the radius. Holt-Oram syndrome. Teratogenic agents (eg. Limb deficiencies can be  Longitudinal (more common)  Transverse Longitudinal deficiencies involve specific maldevelopments (eg. VACTERL (Upper Extremity Limb Abnormalities) . About two thirds of cases are associated with other congenital disorders. in which loose strands of amnion entangle or fuse with fetal tissue. Radial ray deficiency is the most common upper-limb deficiency.absent radius). vitamin A) are known causes of hypoplastic/absent limbs. and hypoplasia of the fibula is the most common lower-limb deficiency. and VACTERL ( vertebral anomalies.

Amniotic bands are the most common cause. James W. Hanson via the Public Health Image Library of the Centers for Disease Con trol and Prevention. Hanson via the Public Health Image Library of the Centers for Disease Control and Prevention. Radial Ray Deficiency © Springer Science+Business Media In transverse deficiencies . James W. and the limb resembles an amputation stump. all elements beyond a certain level are absent. VACTERL (Lower Extremity Limb Abnormalities) Image courtesy of CDC/Dr.Image courtesy of CDC/Dr. the degree of deficiency varies based on the .

. possibly with autosomal dominant inheritance. It may occur in isolation. dislocations. eg. depending on the etiology. and the type of defect may be different in each limb. Polydactyly Polydactyly is supernumerary digits and is the most frequent congenital limb deformity. central. and typically. duplications. The remaining cases are mostly due to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities.location of the band. With transverse or longitudinal deficiency. including acrocallosal syndrome (with developmental delay and corpus callosum defects). the proximal femur and acetabulum do not develop. or other bony defects. One or more limbs may be affected. there are no other defects or anomalies. synostoses. The manifestations range from a broad or duplicated distal phalange to complete duplication of the digit. and postaxial. Preaxial polydactyly is an extra thumb or great toe. infants may also have hypoplastic or bifid bones. or it may be part of certain genetic syndromes. This deformity is classified as preaxial. Carpenter and Pfeiffer syndromes (with craniosynostosis). CNS abnormalities are rare. in proximal femoral focal deficiency.

and the majority follow an autosomal dominant inheritance pattern. In other populations. middle. this type of polydactyly is usually an isolated defect. Polydactyly © Springer Science+Business Media Central polydactyly is rare and involves duplication of the ring. Down syndrome. Postaxial polydactyly is most common and involves an extra digit on the ulnar/fibular side of the limb. Syndactyly Syndactyly is webbing or fusion of fingers or toes. Simple syndactyly involves only fusion of the soft tissue. index fingers. Most commonly. Meckel syndrome. and Holt-Oram syndrome (with congenital heart defects). Several different types are defined. The majority of cases are syndromic. In people of African descent. whereas . Among the syndromes to be considered are Greig cephalopolysyndactyly syndrome. It can be associated with syndactyly and cleft hand. the extra finger is rudimentary. and Bardet-Biedl syndrome. but it can be completely developed.Fanconi and Diamond-Blackfan anemias. McKusick- Kaufman syndrome. Ellis-van Creveld syndrome. it is more often associated with a syndrome of multiple congenital anomalies or chromosomal defects.

chromosomal. assessment by a clinical geneticist is useful. Smith-Lemli-Opitz syndrome manifests with syndactyly of the 2nd and 3rd toes along with multiple other co ngenital anomalies. evaluation should also include a thorough assessment for other physical. Syndactyly of the ring and the small fingers is common in oculo-dento-digital dysplasia. and genetic abnormalities. When defects appear to be familial or if a genetic syndrome is suspected. When available. Syndactyly (Complex) Diagnosis  Usually x-rays  Sometimes genetic testing Typically. Complex syndactyly is present in Apert syndrome (with craniosynostosis). . x-rays are done to determine which bones are involved.complex syndactyly also involves fusion of the bones.

Various craniofacial abnormalities (CFA) result from maldevelopment of the 1st and 2nd visceral arches. Causes include several thousand genetic syndromes as well as prenatal environmental factors (eg. Boyadjiev Boyd. With effective orthopedic and ancillary support. no matter how great the malformation. Detailed information on many of the specific syndromes is available from the Online Mendelian Inheritance in Man ( OMIM ) catalog of genetic disorders. Last full review/revision March 2014 by Simeon A. Children use a prosthesis most successfully when it is fitted early and becomes an integral part of their body and body image during the developmental years. Treacher Collins syndrome). functioning capacity must be thoroughly assessed before a prosthesis or surgical procedure is recommended. University of California Davis. which form the facial bones and ears during the 2nd month of gestation. Devices used during infancy should be as simple and durable as possible. Because of the large number of syndromes. valproic acid). which are most valuable for lower-limb deficiencies and for completely or almost completely absent upper limbs. Each of the specific congenital anomalies discussed here typically can be associated with many different genetic syndromes. ® ® . most children with congenital amputations lead normal lives. the discussions focus on the different structural manifestations.Treatment  Prosthetic devices Treatment consists mainly of prosthetic devices. An upper-limb prosthesis should be designed to serve as many needs as possible so that the number of devices is kept to a minimum. eg. some of which are named (eg. a hook rather than a bioelectric arm. MD. use of vitamin A. Boyadjiev Boyd. If any activity in an arm or hand exists.UC Davis Children's Hospital Congenital craniofacial abnormalities are a group of defects caused by abnormal growth and/or development of the head and facial bones. Therapeutic amputation of any limb or portion of a limb should be considered only after evaluating the functional and psychologic implications of the loss and when amputation is essential for fitting a prosthesis. MD Congenital Craniofacial Abnormalities By Simeon A.

and herpes simplex] and possibly Zika virus). rubella. Sometimes disproportionate macrocephaly is familial and not associated with other anomalies. other pathogens. Macrocephaly Macrocephaly (megacephaly) is a head circumference > 3 standard deviations above the mean for age.In general. and an overgrowth syndrome (eg. Fragile X syndrome. examination for limb asymmetry and cutaneous lesions. and brain MRI. and poorly controlled maternal phenylketonuria. spasticity). In microcephaly. The consequences of microcephaly itself include neurologic and developmental disorders (eg. children with CFA should be evaluated for other associated physical anomalies and developmental delays that may require treatment and/or help identify specific syndromes and causes. growth hormone excess) should be considered. complications. developmental and neurologic assessment. Identification of the underlying syndrome is important for prognosis and family counseling. prenatal infections (eg. including prenatal drug. alcohol. developmental disability. There are two types. a clinical geneticist. TORCH [toxoplasmosis. Microcephaly also is a feature of > 400 genetic syndromes. can help guide the evaluation. Evaluation should include a 3-generation family history. affected children are at risk of autism spectrum disorders. and lysosomal storage disorders. cytomegalovirus. the head appears appropriately sized for the body (ie. this form is transmitted in an autosomal dominant pattern. and seizures. when available. The diagnoses to be considered include neurofibromatosis type I. or radiation exposure. seizure disorders. the head is disproportionately small in relation to the rest of the body. Sotos syndrome. In disproportionate macrocephaly. the head is larger than appropriate for the child's size. Microcephaly Microcephaly is a head circumference < 2 standard deviations below the mean for age. Microcephaly has many chromosomal or environmental causes. Microcephaly . In proportionate macrocephaly. intellectual disability. so at least one parent has a large head circumference. or developmental delays. the large head is associated with a large stature).

craniofrontonasal dysplasia (with craniosynostosis). which causes a characteristic skull deformity due to decreased growth in a direction perpendicular to the closed suture. Primary autosomal recessive microcephaly may involve a defect in one or more of at least four genes. as determined by increased interpupillary distance. Sagittal craniosynostosis is the most common type and causes a narrow and long skull (dolichocephaly). and Aarskog syndrome (with limb and genital anomalies). Muenke. which is due to torticollis or positioning the infant predominantly on one side and does not result in asymmetric orbits. causing a short and broad skull (brachycephaly). depending on which suture is fused. developmental and neurologic assessment. . and the ear on the flattened side may be pushed forward. Among the genetic syndromes to be considered are Seckel syndrome. Most cases are isolated and sporadic. with risk of transmission to offspring < 3%. There are several types. and brain MRI. Coronal craniosynostosis is the second most common type and can be bilateral. Carpenter. and brain abnormalities). the back of the skull is flattened on one side. but the orbits remain symmetrical.© Springer Science+Business Media Evaluation should include detailed prenatal history to identify risk factors. and can occur in several congenital syndromes. depending on which syndrome is present. For parents of an affected child. True plagiocephaly (ie. Coronal craniosynostosis is commonly associated with facial and extracranial anomalies within the context of Crouzon. and thus clinical genetic assessment is necessary. Learning disability may be present in up to 40 to 50% of patients. It occurs in 1 of 2500 live births. syndromes due to defective DNA repair (eg. Saethre-Chotzen. caused by craniosynostosis) often results in asymmetric orbits and is to be differentiated from positional plagiocephaly. Eye anomalies Hypertelorism is widely spaced eyes. About 25% of coronal craniosynostosis cases are syndromic and due to single-gene mutations or chromosomal defects. risk of the disorder appearing in subsequent offspring may be as high as 25%. and Angelman syndrome. Craniosynostosis Craniosynostosis is premature fusion of one or more calvarial sutures. Fanconi and Cockayne syndromes). In positional plagiocephaly. causing a diagonal skull deformity (plagiocephaly). or Apert syndromes. there is frontal bossing on the same side. Smith-Lemli-Opitz syndrome. Pfeiffer. including frontonasal dysplasia (with midline facial cleft. or unilateral.

and Goldenhar syndrome. and ear abnormalities). iris. or optic nerve of one or both eyes. or Aicardi syndrom . H ypertelorism and Micrognathia © Springer Science+Business Media Hypotelorism is closely spaced eyes. Nager syndrome. Coloboma of the iris raises the possibility of CHARGE association ( coloboma. as determined by decreased interpupillary distance. Kabuki syndrome. Coloboma of the eyelid is frequently associated with epibulbar dermoid cysts and is common in Treacher Collins syndrome. heart defects. Coloboma is a gap in the structure of the eye that may affect the eyelid. atresia of the choanae. retina. retardation of mental and/or physical development. genital hypoplasia. cat eye syndrome. This anomaly should raise suspicion of holoprosencephaly (a midline brain abnormality).

MARAZZI/SCIENCE PHOTO LIBRARY Microphthalmia is a small eye globe. Growth and developmental delays are frequently present in microphthalmia that is caused by a chromosomal disorder. colobomas. some of which are suggested by other clinical features. which may be unilateral or bilateral. strabismus. Facial asymmetry suggests Goldenhar syndrome or Treacher Collins syndrome. mild abnormalities (eg. chorioretinal pathology (eg. Coloboma DR P. congenital cataract) of the other eye are frequently present.e. uveal effusion). oculo-dental-digital syndrome. and amblyopia. or fetal alcohol syndrome. Causes include prenatal exposure to teratogens. hand abnormalities suggest trisomy 13. and infections (TORCH). alcohol. and genital abn . It causes sight-threatening complications such as angle-closure glaucoma. Even when unilateral. microcornea. and numerous chromosomal or genetic disorders.

or ophthalmia-mental retardation. Microphthalmia © Springer Science+Business Media Anophthalmia is complete absence of the eye globe and occurs in > 50 genetic syndromes caused by chromosomal anomalies or mutations in one of several genes (eg. SOX2 . When skin covers the orbit. or CHARGE association.ormalities may suggest chromosomal defects. BMP4 ). the anomaly is called cryptophthalmos. OTX2 . Nager syndrome. Fraser syndrome. Anopthalmia . which suggests Fraser syndrome.

Both environmental and genetic factors have been implicated as causes. ANSARY/SCIENCE PHOTO LIBRARY . Having one affected child increases risk of having a second affected child. OCs are the most common congenital anomalies of the head and the neck with a total prevalence of 2. and isolated cleft palate. Prenatal maternal use of tobacco and alcohol may increase risk. decreases the risk.A. taken just before becoming pregnant and through the 1st trimester.© Springer Science+Business Media Cleft palate and cleft lip Cleft lip.1 per 1000 live births. cleft lip and palate. Cleft Lip DR M. Folate. are collectively termed oral clefts (OCs).

A cleft palate interferes with feeding and speech development and increases the risk of ear infections. and maxillofacial growth and to avoid formation of fistulas. Nonsyndromic (isolated) OCs are those present in patients without associated anomalies or developmental delays. The mildest form is a bifid uvula. The cleft may vary from involvement of only the soft palate to a complete fissure of the soft and hard palates. An isolated cleft lip can occur. speech. These OCs are typically caused by chromosome abnormalities and defined monogenic syndromes. A number of different gene mutations can cause the phenotype. including mutations of some of the genes that are involved with syndromic OCs. . Goals of treatment are to ensure normal feeding. which suggests there is significant overlap between syndromic and nonsyndromic OCs. Cleft Palate MORRIS HUBERLAND/SCIENCE PHOTO LIBRARY Oral clefts are divided into 2 groups:  Syndromic (30%)  Nonsyndromic (70%) Syndromic OCs are those present in patients with recognized congenital syndromes or with multiple congenital anomalies. the alveolar process of the maxilla. and the lip.

The cleft lip. speech therapy. masticatory muscles. malformed pinna [microtia]. For a cleft palate. the ramus. parotid gland. the residual hard palate cleft is repaired at age 15 to 18 mo. called distraction osteogenesis. otocephaly. a 2-stage procedure is often done. Syndromes to be considered include agnathia-holoprosencephaly. and a tendency to regurgitate. and hearing loss). and soft palate are repaired during infancy (at age 3 to 6 mo). When other anomalies are present. conductive hearing loss may also be present.Early treatment. middle. The frequent episodes of acute otitis media must be recognized and treated. an osteotomy is done and a distraction (separator) device is attached to both pieces. temporal bone. Surgical extension of the mandible can improve appearance and function. but uncoordinated swallowing may require nasogastric gavage feedings or a gastrostomy tube. The mandible deviates to the affected side. patients may be left with a nasal voice. which may interfere with growth centers around the premaxilla. depends on the specific abnormality but may include specially designed bottle nipples (to facilitate flow). Over time. Prone positioning during feeding may help. coloboma of the eyelid. the unaffected side is elongated and flattened. a feeder that can be squeezed to deliver formula. About one third of patients with micrognathia have associated anomalies that suggest an underlying chromosomal defect or genetic syndrome. pending surgical repair. timing of surgery. Ultimate treatment is surgical closure. Otologic evaluation is indicated. Surgery can result in significant improvement. In the typical procedure. Micrognathia (small mandible) Micrognathia may occur in > 700 genetic syndromes. If cyanosis or respiratory problems persist. however. and Ivemark syndrome. . Feeding can be difficult. and new bone grows in between to enlarge the mandible. is somewhat controversial. a severe form of cerebrocostomandibular syndrome. Abnormalities of the external. resulting in severe malocclusion. sewing it to the inner lower lip) may be required. and inner ears. and facial nerve often coexist. compromised appearance. and cerebrocostomandibular syndrome. and an artificial palate molded to the child’s own palate. nose. dental appliances (to occlude the cleft so suckling can occur). Agnathia Congenital absence of the condyloid process (and sometimes the coronoid process. tracheostomy or surgery to affix the tongue in a forward position (eg. and parts of the mandibular body) is a severe malformation. Dental and orthodontic treatment. a clinical geneticist can help guide the evaluation because identification of the underlying syndrome is important for prognosis and family counseling. taping. but if deformities are severe or treatment is inadequate. Nager syndrome. the distance between the two pieces is widened. Goldenhar (oculoauriculovertebral) syndrome. Some of the diagnoses to be considered include Treacher Collins syndrome (associated with downward slant of the eyes. and counseling may be required. and sometimes cyanosis develops because the tongue is posterior and may obstruct the pharynx. Pierre Robin sequence is a common manifestation of micrognathia characterized by a U-shaped cleft soft palate and upper airway obstruction caused by glossoptosis (a tongue that falls to the back of the throat). Then.

Distraction osteogenesis (see Micrognathia (small mandible)) is being increasingly used. Treatment consists of prompt reconstruction with autogenous bone grafting (costochondral graft) to limit progression of facial deformity. These malformations. Facial CT is usually done before surgery. and soft-tissue flaps and grafts further improve facial symmetry. Often. Congenital ear malformations Microtia and external auditory canal atresia (which causes conductive hearing loss) involve the external ear. Occasionally. which frequently coexist.X-rays or facial CT of the mandible and temporomandibular joint show the degree of underdevelopment and distinguish agenesis from other conditions that result in similar facial deformities but do not involve severe structural loss. Orthodontic treatment in early adolescence helps correct malocclusion. school- based screening tests identify a partially occluded external auditory canal in children with a normal pinna. . mentoplasty. are often identified at or soon after birth. onlay grafts of bone and cartilage.

MD . Last full review/revision March 2014 by Simeon A. Treatment can include surgery and a bone-conduction hearing aid. otitis media) are present. learning. Boyadjiev Boyd. cholesteatoma.Microtia © Springer Science+Business Media Hearing tests (see Hearing Loss : Physical examination) and CT of the temporal bone are necessary to evaluate possible additional bony malformations. tympanic membrane. Surgery may include pinna reconstruction and the creation of an external auditory canal. facial nerve involvement. and social development. and whether complications (eg. depending on whether the malformation is unilateral or bilateral. and ossicles. whether it affects hearing.

Leg. and Foot Abnormalities . Resources In This Article  Figure 1 Microcephaly  Figure 2 Hypertelorism and Micrognathia  Figure 3 Coloboma  Figure 4 Microphthalmia  Figure 5 Anopthalmia  Figure 6 Cleft Lip  Figure 7 Cleft Palate  Figure 8 Microtia Congenital Hip.

High risk factors include  Breech presentation  Presence of other deformities (eg. leg. it can be unilateral or bilateral. University of California Davis. and skeletal deformities. Because physical examination has limited sensitivity. Asymmetric skin creases in the thigh and groin are common. . torticollis. If DDH remains undetected and untreated. and the hip may become painful. ligamentous laxity. leading to subluxation or dislocation. the affected leg eventually becomes shorter. By Simeon A. Developmental dysplasia of the hip (DDH—formerly congenital dislocation of the hip) DDH is abnormal development of the hip joint. Abduction of the hip is often impaired due to adductor spasm. and Foot Abnormalities  Congenital Muscle Abnormalities  Congenital Neck and Back Abnormalities Orthopedic abnormalities of the hip. Some abnormalities resolve without intervention.UC Davis Children's Hospital NOTE: This is the Professional Version. but such creases also occur in infants without DDH. Causes include in utero positioning. CONSUMERS: Click here for the Consumer Version  Congenital Craniofacial and Musculoskeletal Abnormalities  Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities  Arthrogryposis Multiplex Congenita  Common Congenital Limb Defects  Congenital Craniofacial Abnormalities  Congenital Hip. congenital foot deformity)  Positive family history (particularly for girls) DDH seems to result from laxity of the ligaments around the joint or from in utero positioning. Leg. All infants are screened by physical examination. and foot are sometimes not apparent at birth. MD. Boyadjiev Boyd. however. others require treatment. high- risk infants and those with abnormalities found during physical examination typically should have an imaging study.

the knee is drawn across the body) and the thigh is pushed posteriorly. most commonly the Pavlik harness. typically after age 4 mo. Minor benign clicks are commonly detected. the hip is returned to the starting position and then slightly adducted (ie. and girls with a positive family history of DDH. which is often present even if the hip is not actually dislocated at the time of examination. Each hip is examined separately. in the Barlow maneuver. the knee is moved away from the midline into a frog-leg position) and gently pulled anteriorly. Next.Two screening maneuvers commonly are used. knees bent. torticollis. which hold the affected hips abducted and externally rotated. Somewhat later (eg. the acetabulum can form a nearly normal joint. abduction is impeded by adductor spasm. Although clicks usually disappear within 1 or 2 mo. The Ortolani maneuver detects the hip sliding backinto the acetabulum. especially unilateral. The Frejka pillow and other splints may help. and with growth. they should be checked regularly. Hip ultrasonography can accurately establish the diagnosis earlier in life. Treatment is with devices. those born with other deformities (eg. To do the Ortolani maneuver.) suggests dysplasia. and the Barlow maneuver detects the hip sliding out of the acetabulum. Both maneuvers begin with the infant supine and the hips and knees flexed to 90° (the feet will be off the bed). Padded diapers and double or triple diapering are not effective and should not be done to correct DDH. . The hip usually can be reduced immediately after birth. With any delay. and feet on the examining table (Galeazzi sign—see Figure: Galeazzi sign. a difference in knee height when the child is supine with hips flexed. subluxation or dislocation is indicated by inability to completely abduct the thigh when the hip and knee are flexed. A clunk indicates that the head of the femur is moving out of the acetabulum. congenital foot deformity). Imaging is also required when any abnormality is suspected during examination. the potential for correction without surgery decreases steadily. sometimes audible. by 3 or 4 mo of age). the thigh of the hip being tested is abducted (ie. Also. periodic testing for limited hip abduction during the first year of life is advised. Ultrasonography of the hips is recommended at 6 wk of age for infants at high risk. clunk of the femoral head moving over the posterior rim of the acetabulum and relocating in the cavity. Instability is indicated by the palpable. Because bilateral dysplasia may be difficult to detect at birth. including those with a breech presentation. Early treatment is critical. Hip x-rays are helpful after the bones have started to ossify.

The hips are rotated externally and internally. rotated into normal alignment. which includes derotational osteotomy (in which the bone is broken. whereas limitation of external rotation indicates femoral retroversion.Galeazzi sign. Treatment includes derotational osteotomy. Torsion may be either internal (femoral anteversion—knees pointing toward each other with toes in) or external (femoral retroversion—knees pointing in opposite directions) and is common among neonates. At birth. but there is little evidence that the position should be discouraged or avoided. is reserved for children who have a neurologic deficit such as spina bifida or those in whom torsion interferes with ambulation. The child is positioned as shown. If external torsion is prominent at birth. External torsion can also be prominent at birth and still be normal. Orthopedic referral and treatment. Limitation of internal rotation indicates femoral anteversion. internal torsion can be as much as 40° and still be normal. especially after children begin to stand and walk. These children probably assume this position because it is more comfortable. but orthopedic referral is needed when excessive torsion persists after 8 yr. By adolescence. knees are together and feet are spread apart) or sleep prone with legs extended or flexed and internally rotated. a thorough evaluation (including x-rays or ultrasonography) for hip dislocation is indicated. External torsion may occur if in utero forces result in an abduction or external rotation of the lower extremity. The W sitting position was thought to worsen torsion. The knee is lower on the affected side because of posterior displacement in the developmentally dysplastic hip (arrow). Genu varum and genu valgum The 2 major types of knee or femoral-tibial angular deformities are genu varum (bowlegs) and genu valgum (knock-knees). both can cause osteoarthritis of the knee in adulthood. and casted). internal torsion tends to gradually decrease to about 15° without intervention. Untreated. Children with internal torsion may regularly sit in the W position (ie. External torsion typically corrects spontaneously. Torsion is recognized by laying the child prone on the examining table. Femoral torsion (twisting) The femoral head may be twisted. .

and rickets and other metabolic bone diseases should also be ruled out (see Hypophosphatemic Rickets). genu varum and tibial torsion may occur.Genu varum is common among toddlers and usually resolves spontaneously by age 18 mo. Blount disease may occur in early childhood or in adolescence (when it is associated with overweight). surgical . MARAZZI/SCIENCE PHOTO LIBRARY Genu valgum is less common and. Blount disease (tibia vara) should be suspected. the classic x-ray finding is angulation (beaking) of the medial metaphysis. If marked deformity persists after age 10 yr. Early use of splints or braces can be effective. but surgery with or without an external fixator is often needed. Blount disease is due to a growth disturbance of the medial aspect of the proximal tibial growth plate. Early diagnosis of Blount disease is difficult because x-rays may be normal. Genu Varum (Bowleg) DR P. usually resolves spontaneously by age 9 yr. If it persists or becomes more severe. Skeletal dysplasia or hypophosphatasia should be excluded. even if severe.

knees). immediate treatment with daily passive flexion movements and splinting in flexion usually results in a functional knee. prominent forehead. which consists of multiple congenital dislocations (eg. It may occur with Larsen syndrome. External torsion occurs normally with growth: from 0° at birth to 20° by adulthood. clubfoot. depressed nasal bridge. External torsion is rarely a problem. The dislocation may be related to muscle imbalance (if myelodysplasia or arthrogryposis is present) or intrauterine positioning. If the infant is otherwise normal. wide-spaced eyes). Ipsilateral hip dislocation often coexists. and characteristic facies (eg. Tibial torsion Tibial torsion can be external (lateral) or internal (medial) twisting. Genu Valgum (Knock Knee) MEDICAL PHOTO NHS LOTHIAN/SCIENCE PHOTO LIBRARY Knee dislocation Anterior knee dislocation with hyperextension is rare at birth but requires emergency treatment. On examination the leg is extended and cannot be flexed more than a few degrees. . or with arthrogryposis (see Arthrogryposis Multiplex Congenita ). hips. elbows. stapling of the medial distal femoral epiphysis is indicated.

Torsion also occurs with Blount disease (see Congenital Hip. excessive torsion can lead to toeing- in and bowlegs. It occurs in about 2/1000 live births. Similar deformities that result from in utero positioning can be distinguished from talipes equinovarus because they can be easily corrected passively. It results from an abnormality of the talus. and adduction of the forefoot (medial deviation away from the leg’s vertical axis). and Foot Abnormalities : Genu varum and genu valgum). Leg. Typically the foot axis is 10°lateral relative to the thigh axis. but it typically resolves with growth. Talipes equinovarus Sometimes called clubfoot. Persistent. Talipes Equinovarus (Clubfoot) . However. talipes equinovarus is characterized by plantar flexion. is bilateral in up to 50% of affected children. inward tilting of the heel (from the midline of the leg). the angle between the axis of the foot and the axis of the thigh is measured with the child prone and the knees flexed to 90°. To evaluate for tibial torsion. This angle can also be measured by seating the child and drawing an imaginary line connecting the lateral and medial malleoli.Internal torsion is common at birth. an excessive degree of torsion may indicate a neuromuscular problem. Developmental dysplasia of the hip (see Congenital Hip. and may occur alone or as part of a syndrome. and Foot Abnormalities : Developmental dysplasia of the hip (DDH—formerly congenital dislocation of the hip)) is more common among these children. Leg.

Talipes equinovarus may recur as children grow. or use of malleable splints to normalize the foot’s position. Developmental dysplasia of the hip is more common among these children. . while the tarsal bones are still cartilaginous. taping. surgery may be required. surgery is done before 12 mo. Early treatment with a cast (to place the foot in the equinovarus position) or with corrective braces is usually successful. Talipes calcaneovalgus The foot is flat or convex and dorsiflexed with the heel turned outward. If casting is not successful and the abnormality is severe. which consists initially of repeated cast applications. The foot can easily be approximated against the lower tibia. Optimally.MIKE DEVLIN/SCIENCE PHOTO LIBRARY Treatment requires orthopedic care.

not correcting to neutral. Talipes Calcaneovalgus © Springer Science+Business Media Metatarsus adductus The forefoot turns toward the midline. an affected foot is rigid. Usually. The foot may be supinated at rest. Developmental dysplasia of the hip is more common among these children. Occasionally. the foot can be passively abducted and everted beyond the neutral position when the sole is stimulated. .

Metatarsus varus The plantar surface of the foot is turned inward. This deformity usually results from in utero positioning. Metata rsus Adductus © Springer Science+Business Media The deformity usually resolves without treatment during the first year of life. It typically does not resolve after birth and may require corrective casting. If it does not. so that the arch is raised. casting or surgery (abductory midfoot osteotomy) is required. .

MD Resources In This Article  Figure 1 Galeazzi sign.  Figure 2 Genu Varum (Bowleg)  Figure 3 Genu Valgum (Knock Knee)  Figure 4 Talipes Equinovarus (Clubfoot)  Figure 5 Talipes Calcaneovalgus . Metatarsus Varus © Springer Science+Business Media Last full review/revision March 2014 by Simeon A. Boyadjiev Boyd.

Changes occur in both joint soft tissues and the opposing bones. and oftentimes. When too much calcium is dissolved from bones or not enough replaced. the female sex hormone. especially. A . rock-like quality of bone is dependent upon calcium. our joint tissues become less resilient to wear and tear and start to degenerate manifesting as swelling. women are at higher risk of developing osteoporosis. Estrogen. pain and immobility. a condition called osteoarthritis. Figure 6 Metatarsus Adductus  Figure 7 Metatarsus Varus 1Musculoskeletal System Diseases Arthritis – As we age. bones lose density and are easily fractured. women. The latter is an autoimmune disease wherein the body produces antibodies against joint tissues causing chronic inflammation resulting in severe joint damage. loss of mobility of joints.” The bane of the old. The hard. pain. A more serious form of disease is called rheumatoid arthritis. Once the ovaries stop producing the hormone. helps maintain proper calcium levels in bones. Osteoporosis – “Porous bone.

closed bag with a minimum amount of lubricatory fluid that serves as a shock absorber where bones make close contact and to minimize trauma and friction where tendons cross bones and joints. Hip fractures are a common occurrence. The main nerve for finely controlled thumb movements passes through a bony/ligamentous canal on the bottom of the wrist. Tendons have a poor blood supply. Before vitamin supplementation to milk. Both adequate calcium in the diet and vitamin D. especially. Hard. index and middle fingers along with weakness of movements of the thumb.” If not enough calcium is deposited during early childhood development. . was common resulting in the classic bowed legs of the afflicted child.collapse of bony vertebrae of the spinal column results in loss of height and stooped posture. “rickets. grasping an object. Tendonitis– Repeated strain on a tendon. such as in tennis and baseball can tear one of these tendons resulting in pain and decreased mobility of the shoulder. Rotator cuff tear – Muscles surrounding the shoulder joint are involved in rotating the shoulder with upper arm and hand forward and backward. Surgery may be needed to repair a torn tendon. attachment of a muscle to bone. therefore. house painting) may develop tingling and/or pain in their thumb. Inflammation leads to pain and immobility in a joint area. Osteomalacia – “Soft bones. The tendons of these muscles also contribute to the structural strength of the shoulder joint. but rubbery. can inflame the tendon resulting in pain and difficulty with movement involving the muscle. Repetitive flexing movements may inflame and thicken the ligament over the “tunnel” through the carpal (wrist) bones trapping and compressing the nerve. among other movements. Carpal tunnel syndrome – People whose job involves repeated flexing of their wrist (typing. primarily. are necessary for normal bone development. Bursitis – A bursa is a small. they typically take a long time to heal on the order of six weeks or more. the bones do not become rock-hard.” another name for osteomalacia in children. fast movements. from normal sunlight exposure or supplementation.

lupus means “wolf” in Latin. means abnormal. lungs. The most common form in children is called Duchenne muscular dystrophy and affects only males. The prefix. or kidneys. There is no actual paralysis of muscles involved.Muscular dystrophy – Muscular dystrophy is a group of inherited diseases in which the muscles that control movement progressively weaken. Mild Lupus may involve a distinctive butterfly-shaped rash over the nose and cheeks. By the way. refers to maintaining normal nourishment. but a rapid fatiguing of function. The root. Lupus erythematosus – An autoimmune disease wherein the body produces antibodies against a variety of organs. Maybe a reference to the facial rash that might give a patient a wolf-like appearance. Face and neck muscles are the most obviously affected. This is an autoimmune disease that involves production of antibodies that interfere with nerves stimulating muscle contractions. structure and function. Mild lupus may also involve myalgia and arthralgia (remember these words?) Severe or systemic lupus (SLE) involves inflammation of multiple organ systems such as the heart. double vision. especially connective tissues of skin and joints. Myasthenia gravis – “Muscular weakness. -trophy. manifesting as drooping eyelids. . difficulty swallowing and general fatigue. dys-. profound”. It usually appears between the ages of 2 to 6 and the afflicted live typically into late teens to early 20s.