White forelock with malformations

Orpha code: 2475OMIM code: 277740

Definition

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.

Disease data
Classification

Malformation syndrome

ORPHA code
2475
OMIM code
277740
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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