Oculoosteocutaneous syndrome
Oculoosteocutaneous syndrome
Definition
A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
Also known as anodontia-hypotrichosis syndrome, brachymetapody anodontia hypotrichosis albinoidism, BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM, oculoosteocutaneous syndrome — per MONDO