Orphanet: Short rib polydactyly syndrome

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Short rib-polydactyly syndrome

ORPHA:1505

Classification level: Group of disorders

Synonym(s): -
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Neonatal, Antenatal
ICD-10: -
ICD-11: LD24.B0
OMIM: -
UMLS: C0036996
MeSH: D012779
GARD: -
MedDRA: -

Summary

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.

Expert reviewer(s): Dr Martine LE MERRER - Last update: September 2008

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Short rib-polydactyly syndrome

ORPHA:1505

Summary

Epidemiology

Clinical description

Etiology

Genetic counseling

A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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