X-linked chondrodysplasia punctata 1

info · Syndrome · ICD-10: Q77.3

A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.

Signs and symptoms

Microcephaly
Hearing impairment
Short nasal septum
Short stature
Global developmental delay
Short nose
Depressed nasal bridge
Epiphyseal stippling
Ichthyosis
Cataract

Also known as: chondrodystrophia calcificans congenita