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fibular hypoplasia

Congenital aplasia or hypoplasia of the fibula (FAH) is a rare malformation that is defined by a partial or complete absence of the fibular bone.

Etiology and pathogenesis are unknown and the precise morphology of the tissue cord replacing the malformed fibula has not been well described.

Etiology (Examples)

- otopalatodigital syndrome type 2 (OPD2)

Types

- unilateral hypoplastic fibula
- bilateral hypoplastic fibulae

  • symmetric hypoplastic fibulae
  • asymmetric hypoplastic fibulae

Individual associations

- oligodactyly
- ectrodactyly

Familial associations

- proximal focal femoral deficiency (PFFD)

See also

- lateral ray defects
- fibular developmental field

References

- Hermanns-Sachweh B, Stemper A, Klosterhalfen B, Senderek J, Buttner R, Weber M. Light microscopic, immunohistochemical, and ultrastructural findings in congenital fibular aplasia or hypoplasia (FAH). Pediatr Dev Pathol. 2005 Jul-Aug;8(4):474-82. PMID: #16211453#