The disorder is hard to diagnose early as the symptoms do not become pronounced until late in childhood. Sufferersare advised to avoid obesity.
F) Multiple Epiphyseal Dysplasia
This is a disproportionate form of dwarfism which does not manifest symptoms until a child is school aged, sometimesin his/her teens.It is characterised by delayed and/or irregular ossification at multiple epiphyseal. There are two forms:Ribbing - which is mild Fairbank - which is much more severe. Clinical Problems Include very short, stuntedmetacarpals/metatarsals, abnormal ossification, T12/L1 notching and deformed ring apophysis, irregular femora,valgus knees [osteotomies may help],waddling gait, early arthritis of the hip.
G) Dysplasia Epiphysealis Hemimelica [Commonly known as Trevors Disease]
This disorder affects only one limb and only one half of this limb.Sufferers develop an osteochondroma.[This is abenign tumour made up of a stalk of bone capped with cartilage.] It manifests itself in late childhood and develops intoan irregular shaped enlargement of half of the epiphyses - usually the medial half. It most commonly affects the knee joint. Large osteochondromas can interfere with skeletal growth causing deformity. In some instances they arerelatively problem free. Partial excision of the overgrowth, if large is required.
H) Progressive Diaphyseal Dysplasia
AD Sufferers develop symmetric, cortical thickening of one or more of the larger bones such as the tibia, femur orhumerus. Only the diaphyseal portion of the bone is affected. The attached muscle is subsequently weakened sowalking is delayed in infants whose leg bones are affected. Progressive symptoms include scoliosis, possible limblength inequality plus increasing difficult of movement.
This form of dwarfism - which is proportionate - is caused when a hydrolase enzyme deficiency creates anaccumulation of mucopolysaccharides [MPSs]. It is easily diagnosed due to the amount of complex sugars whichappear in the urine. There are four main types. Hurler Syndrome Hunter Syndrome Sanfilippo Syndrome MorquioSyndrome. [This is the most common. It manifests itself when the patient is about 18 months old.] Signs andSymptoms include: knock knees, a waddling gait, thoracic kyphosis, coxa vara with non ossified femoral heads,anterior beaking of vertebrae, thickened skull bullet shaped metacarpals, C1/C2 instability [due to odontoidhypoplasia] which requires decompression and also cervical fusion.
J) Diastrophic Dysplasia - AR
This is a very severe, short limbed form of dwarfism.It is associated with a disorder of type II. Collagenin the physis.The patients body takes on a twisted appearance. Other signs and symptoms include painful joint contractures, rigidclub feet, mid thoracic kypho-scoliosis, cervical kyphosis [which requires neurologic sequela treatment] a cleft palate,spina bifida occulta, thoracholumbar kypho-scoliosis, cauliflower cars and atlantoaxial instability due to odontoidhypoplasia.
K) Cleidocranial Dysplasia - AD
This is a proportionate form of dwarfism which affects only those bones which are formed intramembranously.Patients suffer delayed skull suture closure, frontal bossing , coxa vara [an intertrochanteric osteotomy could beconsidered if varus is <100 degrees] wormain bone formations and delayed ossification of the pubis.