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FATCO syndrome

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Disease definition

A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.

ORPHA:2492

Classification level: Disorder

Synonym(s):
  • Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
  • Hecht-Scott syndrome

Prevalence: <1 / 1 000 000

Inheritance: -

Age of onset: Antenatal, Neonatal

ICD-10: Q87.2

OMIM: 246570

UMLS: C1855499

MeSH: C565436

GARD: 2622

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018)
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