X-linked Recessive Chondrodysplasia Punctata

X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.

It causes maxillary hypoplasia (flat nose / affected nasal bridge), stippling shown on x-ray on bones and cartlidge, and shorter ends of the finger tips or toes.

Read more about X-linked Recessive Chondrodysplasia Punctata:  Aetiology, Diagnosis, See Also