• The recognition of the pattern of congenital malformations and dysmorphic

Dysmorphology features characterizing a particular syndrome.

• The collections of abnormalities, including malformations, deformations,

Syndromes dysmorphic features and abnormal behaviors that have a unifying,
identifiable etiology.

Congenital • Clinically significant abnormalities in either form or function, resulting

from localized intrinsic defects in morphogenesis caused by an event that
malformations occurred in embryogenesis.

• A result of environmental forces acting on normal structures, which

Deformations normally occur later in pregnancy or after delivery.
 • A group of malformations occurring more commonly together than might
be expected by chance, in which no single unifying etiology can explain
Association the condition.
• VACTERL - vertebral anomalies, anal atresia, cardiac defects,
tracheoesophageal fistula, renal anomalies and limb anomalies.
1. Patient’s information
2. Chief complaint and relevant history of presenting illness
3. Systemic review
4. Antenatal and birth history

Maternal age during • increased maternal age ~ increased risk of non-

pregnancy disjunction leading to trisomy

• ~ higher risk of new mutation leading to autosomal

Advanced paternal age dominant trait

Small for gestational age • chromosomal anomaly or exposure to teratogens

• maternal diabetes
Large for gestational age • overgrowth syndrome, such as Beckwith-Wiedemann
 • Extreme prematurity => intellectual disabilities
Duration of gestation • Post maturity => ~ with chromosome anomalies and anencephaly

• Increased amount => ~ intestinal obstruction or a central nervous system

anomaly leading to poor swallowing
Amount of amniotic fluid • Decreased amount => may be due to a chronic amniotic fluid leak or
suggesting a urinary tract abnormality resulting in failed urine production

Maternal medical • T1DM, Infections

problems

Exposure to teratogens • Medications, drugs, cigarette smoking, alcohol use, radiation, chemicals

§ Results of pre-natal testing including ultrasound examinations.

5. Past medical and surgical history
6. Drug history
7. Nutrition or feeding history
8. Family history

Construct a pedigree comprising at least 3

generations

Search for similar or dissimilar abnormalities in 1st

and 2nd degree relatives

Document any neonatal or pregnancy loss

Consanguinity --> increases the incidence of

autosomal recessive disorders
§ Growth Assessment
§ Measure the height, weight and head circumference, and plot the appropriate
growth charts.
§ Small size or growth restriction may be secondary to a chromosomal abnormality,
skeletal dysplasia, or exposure to toxic or teratogenic agents.
§ Larger than expected size suggest overgrowth syndrome (e.g. Beckwith-Wiedemann
syndrome) or even diabetic mother

§ Assess if the limbs, trunk and head are in proportion

 NORMAL

Cranium size
and
appearance

Microcephaly Macrocephaly Brachycephaly Plagiocephaly Scaphocephaly

Forehead Midface
• Eyes
• Overt prominence • Distance between eyes
• Deficient/slopping • Features of palpebral
appearance fissures
• Extraocular movement
abnormalities
• Nose
• Flattened nasal bridge
• Prominent nasal bridge
• Anteverted nares

Mandibular region Ears

• Chin • assess the size,
• Size of mouth shape, position,
• Macrostomia orientation
• Microstomia
• Microtia
• Teeth - spaced
• Tongue - protrusion
• Low set ears
• Palate and uvula • Malformed,
• high arched palate posteriorly rotated
• cleft uvula and low set ear
 Facial photos of our 10
patients.
Note the closed distinct facial
dysmorphism including wide
palpebral fissures, arched
eye brows, hypertelorism,
broad nasal bridge, short
prominent nose and tented
upper lip.

Abdel-Hamid, M.S. & Issa, Mahmoud & Otaify, Ghada & Abdel-Ghafar, S.F. & Elbendary, H.M. & Zaki,
Maha. (2017). PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new
patients and a homozygous founder mutation. Clinical genetics. 93. 10.1111/cge.13033.
 Neck Chest Spine Abdomen
Webbed Shape Thoracolumbar
• Turner syndrome • Pectus carinatum scoliosis Hepatomegaly
• Noonan syndrome • Pectus excavatum • Marfan syndrome with or without
• Skeletal dysplasia splenomegaly

Shortened Wide-spaced Vertebral

• Down syndrome nipple segmentation
• Skeletal dysplasia • Down syndrome defects
• Cervical spine • Turner syndrome • VACTERL association
anomalies

Assess the size of Look for any deep

the thyroid and Assess the sacral dimple,
position of the symmetry sacral hair tufting
posterior hairline and sacral tag
 Extremities

• Limited range of motion

• Presence of single or
multiple joint contractures
• Examine the hands and
feet
• Polydactyly
• Oligodactyly
• Syndactyly
• Brachydactyly
• Arachnodactyly
• Broad thumbs and toes
• Clubfoot
Oligodactyly
 Syndactyly Arachnodactyly of the hands at 5 months of age

Brachydactyly Clubfoot
Chromosome should be ordered for children with multiple congenital
analysis anomalies, the involvement of one major organ system
and the presence of multiple dysmorphic features, or the
presence of mental retardation

Direct DNA analysis can be performed to identify specific mutations

Radiological testing includes: ultrasound exams, skeletal radiographs,

imaging electrocardiogram, echocardiogram, magnetic resonance
imaging, computed tomography scan.