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

Leri-Weill dyschondrosteosis

Leri-Weill syndrome is a mesomelic short stature syndrome with disturbances of bone and cartilage formation and Madelung deformity. Mutations of the SHOX gene cause this disorder. This gene is located on both gonosomes. The pattern of in heritance is depending on the mutation dominant or recessive. Also penetrance seems to be variable.

Symptoms

Growth retardation
A disproportional short stature is typical, called mesomelia.
Dysmorphism
Characteristically, Madlung deformity develops in mid or late childhood.

Systematic

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

References:

1.

Nassif R et al. (1970) Madelung's deformity with conductive hearing loss.

external link
2.

Roubicek M et al. (2003) SHOX deficiency phenotypes.

external link
3.

None (1965) DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.

external link
4.

Binder G et al. (2003) Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

external link
5.

Ross JL et al. (2005) The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

external link
6.

Anton JI et al. (1938) MADELUNG'S DEFORMITY.

external link
7.

Rullier J et al. (1968) [Familial dyschondrosteosis. Study of 3 cases (mother and her 2 sons)].

external link
8.

Carter AR et al. (1974) Dyschondrosteosis (mesomelic dwarfism)--a family study.

external link
9.

Lisker R et al. (1972) Dyschondrosteosis. A Mexican family with two affected males.

external link
10.

Felman AH et al. (1969) Madelung's deformity: observations in 17 patients.

external link
11.

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

external link
12.

Felman AH et al. (1970) Dyschondrosteose. Mesomelic dwarfism of Lwei and Weill.

external link
13.

Herdman RC et al. (1966) Dyschondrosteosis. The most common cause of Madelung's deformity.

external link
14.

Hecht F et al. (1984) Linkage of skeletal dysplasia gene to t(2;8)(q32;p13) chromosome translocation breakpoint.

external link
15.

Ventruto V et al. (1983) Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).

external link
16.

Fasanelli S et al. (1983) A possibly new form of familial bone dysplasia resembling dyschondrosteosis.

external link
17.

Dawe C et al. (1982) Clinical variation in dyschondrosteosis. A report on 13 individuals in 8 families.

external link
18.

Lichtenstein JR et al. (1980) Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.

external link
19.

Gokhale DA et al. (1995) Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.

external link
20.

Fujimoto M et al. (1998) The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

external link
21.

Spitz F et al. (2002) A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

external link
22.

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
23.

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

external link
24.

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

external link
25.

Schiller S et al. (2000) Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

external link
26.

Grigelioniene G et al. (2000) Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

external link
27.

Huber C et al. (2001) SHOX point mutations in dyschondrosteosis.

external link
28.

Ross JL et al. (2001) Phenotypes Associated with SHOX Deficiency.

external link
29.

Benito-Sanz S et al. (2005) A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

external link
30.

Gatta V et al. (2007) Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

external link
31.

Sabherwal N et al. (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

external link
32.

Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

external link
33.

Shears DJ et al. (1998) Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

Stuppia L et al. (1999) Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

external link
38.

Calabrese G et al. (1999) X/Y translocation in a family with Leri-Weill dyschondrosteosis.

external link
39.

Ogata T et al. (2001) SHOX haploinsufficiency and overdosage: impact of gonadal function status.

external link
40.

Ross JL et al. (2003) Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

external link
41.

Orphanet article

Orphanet ID 240 external link
42.

OMIM.ORG article

Omim 127300 external link
43.

Wikipedia article

Wikipedia EN (Léri–Weill_dyschondrosteosis) 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