Condition report · Musculoskeletal

SHOX Deficiency

Conditions caused by loss of the SHOX gene, one of the most common single-gene causes of short stature, often with shortened forearms and lower legs.

A condition report looks for rare variants known to cause the conditions it covers.

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SHOX

What your report covers

Leri-Weill dyschondrosteosis

Short stature with shortened forearms and lower legs and a characteristic wrist deformity (Madelung deformity), caused by loss of one copy of SHOX or its regulatory regions.

What a diagnosis changes

Growth hormone treatment is approved for children with short stature due to SHOX deficiency.

Genes analysed

SHOX

Also known as

DCo; dyschondrosteosis; Leri Weill dyschondrosteosis; Leri-Weill dyschondrosteosis, Pseudoautosomal dominant; Leri-Weill dyschondrostosis; Leri-Weill syndrome; LWD; Léri-Weill dyschondrosteosis; Léri-Weill syndrome

Includes 3 related subtypes ↓

Madelung deformity
Madelung deformity, bilateral
Madelung deformity, unilateral

MONDO:0007481 OMIM 127300 Orphanet 240 MedGen 75562

Langer mesomelic dysplasia

A more severe form of SHOX deficiency, with marked shortening of the forearms and lower legs, caused by loss of both copies of SHOX.

Genes analysed

SHOX

Also known as

langer mesomelic dysplasia, pseudoautosomal recessive; Langer syndrome; Langer type mesomelic dysplasia; LMD; mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type; mesomelic dwarfism, Langer type

MONDO:0009588 OMIM 249700 Orphanet 2632 MedGen 96585

Limitations

SHOX lies in the pseudoautosomal region shared by the X and Y chromosomes, and most cases (around 70 to 80%) are caused by deletions of SHOX or its nearby regulatory regions. These may not be detected.

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