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Filippi syndrome

Disease 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.

ORPHA:3255

  • Synonym(s):
    • Type 1 syndactyly-microcephaly-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 272440
  • UMLS: C0795940
  • MeSH: C538152
  • GARD: 62
  • MedDRA: -

Additional information

Further information on this disease

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