Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation.
A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder.
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D001763:Blepharoptosis / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000473:pathology*; D003103:Coloboma / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008297:Male; D010859:Pigmentation Disorders / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome