The main features of this condition are evident in skeleton and face. Facial features: * Macrocephaly * Frontal bossing * Midface hypoplasia * Depressed nasal root * Small upturned nose * Prognathism Skeletal features: * Shortened limbs (more pronounced in lower limbs) * Short stature * Progressive coxa vara On X ray: * Abnormal vertebral bodies (particularly in the lumbar region) * Avascular necrosis of the capital femoral epiphyses * Striated metaphyses * Generalized mild osteoporosis * Delayed ossification of the carpal bones Other associated conditions: These are variably present * Cataracts * Hypogammaglobulinemia * Intellectual disability * Short dental roots * Subglottic stenosis * Tracheobronchomalacia
Sponastrime dysplasia
Acromicric dysplasia
Thanatophoric dysplasia
Lethal midline granuloma
Boomerang dysplasia
Congenital lip pit
Diastrophic dysplasia
Skin tag