oculoosteocutaneous syndrome
MONDO:0008884Mondo
Findings
No curated finding names oculoosteocutaneous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008884), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: oculoosteocutaneous syndrome
- Also called
- anodontia-hypotrichosis syndromebrachymetapody anodontia hypotrichosis albinoidismBRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM