Macular coloboma-cleft palate-hallux valgus syndrome

Orpha code: 91494OMIM code: 216800

Definicja

Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
91494
Kod OMIM
216800
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl