Details of Disease

General Information of Disease (ID: DISFTDQH)

• Disease Name: Filippi syndrome
• Synonyms: syndactyly, type I, with microcephaly and mental retardation; unusual facial appearance, microcephaly, growth and mental retardation and syndactyly; FLPIS; Scott craniodigital syndrome with mental retardation; syndactyly type I with microcephaly and intellectual disability; syndactyly type I with microcephaly and mental retardation; unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly; syndactyly, type I, with microcephaly and intellectual disability; Scott craniodigital syndrome with intellectual disability; FILIPPI syndrome; type 1 syndactyly-microcephaly-intellectual disability syndrome; Filippi syndrome
• Definition: Filippi syndrome is characterized 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 Hierarchy:
  DISFLSDF: Polydactyly-syndactyly-triphalangism
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISFTDQH: Filippi syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010092
  MESH ID: C538152
  UMLS CUI: C0795940
  OMIM ID: 272440
  MedGen ID: 163197
  Orphanet ID: 3255
  SNOMED CT ID: 720954000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENOSF1	OT65D3ZK	moderate	Biomarker	[1]
CKAP2L	OT4T73GG	Definitive	Autosomal recessive	[2]

References

• [1] Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.