Chondrodysplasia Punctata MedPix

Description: Chondrodysplasia includes a variety of multiple epiphyseal dysplasia in which the unossified cartilaginous epiphyseal centres become calcified during the first year after birth. Five types are identified: rhizomelic; X-linked dominant or Conradi Hunermann syndrome; X-linked recessive or Curry type; Sheffield type; and tibia-metacarpal type. It occurs in X-linked recessive or autosomal dominant inheritance (depending on the type) with most resulting from new mutations. Clinically there is craniofacial dysmorphism: asymmetric head, frontal bossing, flat nasal bridge, dysplastic auricles, mongoloid palpebral fissures, hypertelorism, and high-arched palate. There are numerous ocular abnormalities: cataracts, corneal opacity, nystagmus, micropthalmos, microcornea, glaucoma, dislocated lens. Cutaneous abnormalities include icthyosiform erythroderma and hyperkeratosis, atrophoderma, circumscripta alopecia, sparse eyebrows and lashes, layered or split nails. There is asymmetric shortening of the limbs, dysfunction of joints (hyperflexion), clubfoot or valgus deformity, hexadactyly, scoliosis, vertebral clefting or wedging, short necks, and pulmonary artery stenosis.