Short Rib-Polydactyly Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

NEK1, WDR35, IFT52, KIAA0586, WDR34, DYNC2H1, DYNC2LI1, WDR60, TCTEX1D2, IFT140, IFT172, TTC21B, CEP120, CILK1, FLVCR1, INTU, IFT43, IFT80, TCTN3, PPP1R2C, UCN2

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A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).

Epidemiology

Prevalence as a group is unknown.

Clinical description

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.

Etiology

Causative genes have been identified for the Ellis Van Creveld syndrome (EVC and IFT80 gene; 3q25.33).

Genetic counseling

All of these clinically different syndromes are inherited as autosomal recessive traits.