Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. Disease data Classification Malformation syndrome Synonyms Type 1 syndactyly-microcephaly-intellectual disability syndrome Syndaktylia, typu 1 - małogłowie - niepełnosprawność intelektualna ORPHA code 3255 OMIM code 272440 ICD10 code Q87.8 ICD11 code LD2F.1Y *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