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Start free with EleplanFuhrmann syndrome
ORPHA:2854Malformation syndrome
Also called Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome
What it is
A rare syndrome with limb reduction defects characterized by severe femoral bowing, aplasia/hypoplasia of the fibula and ulna. Patients may present with poly-, oligo-, clino- and syndactyly. Absence/coalescence of tarsal bones, absence of metatarsals, hypoplasia/aplasia of toes, fingers and fingernails, hypoplasia of pelvis, congenital hip dislocation, short stature and amenorrhea have also been reported.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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