SHOX Deficiency Short Stature

Disproportionate short stature caused by SHOX gene haploinsufficiency.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is SHOX Deficiency Short Stature?

SHOX deficiency is a disproportionate short stature disorder caused by mutations or deletions of the short-stature homeobox-containing gene located in the pseudoautosomal region (PAR1) of the X and Y chromosomes. SHOX plays a key role in growth plate development.

Clinically there is a wide spectrum: isolated short stature, Léri-Weill dyschondrosteosis (with characteristic Madelung deformity) and Langer mesomelic dysplasia (homozygous severe form). Disproportionate short stature with relatively short forearms and legs is observed.

Diagnosis is established by FISH or MLPA analysis showing SHOX deletion/mutation. Growth hormone (GH) therapy was approved by the FDA in 2006 for SHOX deficiency and provides significant gains in final adult height.

Symptoms

Short stature (>2 SD below mean)

Disproportionate body (short legs)

Madelung deformity (in adolescence)

Cubitus valgus

Short and broad forearms

Tibial bowing

Hypertrophy of the long limb segments

Risk Factors

SHOX gene mutation/deletion

Family history

Pseudoautosomal inheritance

Léri-Weill dyschondrosteosis carriers

Turner syndrome (haploinsufficiency)

Consanguineous marriage (Langer)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Persistent short stature in childhood
Disproportionate body growth
Wrist deformity in adolescence
Family history of short stature
Suspicion in Turner syndrome screening
Suspicion of skeletal dysplasia

Treatment Methods

Recombinant human growth hormone (GH)

Orthopedic follow-up (Madelung)

Genetic counseling

Pediatric endocrinology follow-up

Family screening (FISH/MLPA)

Long-term GH-response monitoring

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.