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

Langer mesomelic dysplasia

Langer mesomelic dysplasia is a mesomelic short stature syndrome. Mutations of the SHOX gene cause this disorder. This gene is located on both gonosomes. Inheritance is pseudo-autosomal recessive. Due to haploinsufficiency at the children may develop SHOX related short stature or Leri-Weill dyschondrosteosis.

Systematic

Short stature, SHOX-linked
Langer mesomelic dysplasia
SHOX
Leri-Weill dyschondrosteosis
X-linked familial short stature
Y-linked familial short stature

References:

1.

Sabherwal N et al. (2004) Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

external link
2.

None (1995) The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

external link
3.

Kunze J et al. (1980) Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

external link
4.

None (1967) Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.

external link
5.

Fryns JP et al. (1979) Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

external link
6.

Goldblatt J et al. (1987) Heterozygous manifestations of Langer mesomelic dysplasia.

external link
7.

Evans MI et al. (1988) Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.

external link
8.

BLOCKEY NJ et al. (1963) AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS.

external link
9.

Espiritu C et al. (1975) Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

external link
10.

Robertson SP et al. (2000) Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

external link
11.

Belin V et al. (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

external link
12.

Barca-Tierno V et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

external link
13.

Bertorelli R et al. (2007) The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

external link
14.

Thomas NS et al. (2004) SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

external link
15.

Sabherwal N et al. (2004) A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

external link
16.

OMIM.ORG article

Omim 249700 external link
17.

Orphanet article

Orphanet ID 2632 external link
18.

Wikipedia article

Wikipedia EN (Langer_mesomelic_dysplasia) 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