Synonyms: Type 1 syndactyly-microcephaly-intellectual disability syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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