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Short rib-polydactyly syndrome
A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
ORPHA:1505Classification level: Group of disorders
- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Antenatal
- ICD-10: Q77.2
- OMIM: -
- UMLS: C0036996
- MeSH: D012779
- GARD: -
- MedDRA: -
Prevalence as a group is unknown.
The group is heterogeneous and includes Jeune syndrome and Ellis Van Creveld syndrome (see these terms), neither of which are lethal, together with lethal chondrodysplasias: Saldino-Noonan (type 1), Majewski (type 2), Verma-Naumoff (type 3) and Beemer-Langer (Type 4; see these terms). This classification is based on radiological findings. Visceral malformations are frequent and differ between the syndromes. Some cases do not fit any category.
Causative genes have been identified for the Ellis Van Creveld syndrome (EVC and IFT80 gene; 3q25.33).
All of these clinically different syndromes are inherited as autosomal recessive traits.