Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Disease data Classification Disease Synonyms Epiphyseal dysplasia-microcephaly-nystagmus syndrome Dysplazja nasadowa - małogłowie - zez ORPHA code 1824 OMIM code 226960 ICD10 code Q87.5 ICD11 code LD24.6Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl