Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Disease data Classification Malformation syndrome Synonyms Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprozencefalia - ektrodaktylia - rozszczep wargi i podniebienia ORPHA code 2117 OMIM code 615465 ICD10 code Q87.8 ICD11 code - *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