Macular coloboma-cleft palate-hallux valgus syndrome

Definition

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

Classification

Malformation syndrome

ORPHA code

91494

OMIM code

216800

ICD10 code

Q87.8

ICD11 code

*Soruce