Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Short-rib thoracic dysplasia with or without polydactyly 12

Short-rib thoracic dysplasia with or without polydactyly type 12 is a hereditary disorder with not yet clarified genetic background.

Systematic

Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with or without polydactyly 01
Short-rib thoracic dysplasia with or without polydactyly 02
Short-rib thoracic dysplasia with or without polydactyly 03
Short-rib thoracic dysplasia with or without polydactyly 04
Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly 06
Short-rib thoracic dysplasia with or without polydactyly 07
Short-rib thoracic dysplasia with or without polydactyly 08
Short-rib thoracic dysplasia with or without polydactyly 09
Short-rib thoracic dysplasia with or without polydactyly 10
Short-rib thoracic dysplasia with or without polydactyly 11
Short-rib thoracic dysplasia with or without polydactyly 12
Short-rib thoracic dysplasia with or without polydactyly 13
Short-rib thoracic dysplasia with or without polydactyly 14
Short-rib thoracic dysplasia with or without polydactyly 15
Short-rib thoracic dysplasia with or without polydactyly 16
Short-rib thoracic dysplasia with or without polydactyly 17
Short-rib thoracic dysplasia with or without polydactyly 18
Short-rib thoracic dysplasia with or without polydactyly 19

References:

1.

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

external link
2.

Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

external link
3.

Huber C et al. (2012) Ciliary disorder of the skeleton.

external link
4.

Beighton P et al. (1992) International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone.

external link
5.

Yang SS et al. (1991) Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.

external link
6.

Lin AE et al. (1991) Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

external link
7.

None (1991) Short rib syndrome--Beemer type in sibs.

external link
8.

Balci S et al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

external link
9.

None (1988) A lethal short rib syndrome without polydactyly.

external link
10.

None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly.

external link
11.

Beemer FA et al. (1983) A new short rib syndrome: report of two cases.

external link
12.

None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.

external link
13.

Cideciyan D et al. (1993) New findings in short rib syndrome.

external link
14.

Elçioğlu N et al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

external link
15.

Kovács N et al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.

external link
16.

OMIM.ORG article

Omim 269860 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits