Léri–Weill dyschondrosteosis

From WikiMD's WELLNESSPEDIA

Léri–Weill dyschondrosteosis
File:Autosomal dominant - en.svg
Synonyms
Pronounce
Field
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths


Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).[1]

Causes[edit]

It is caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.[2]

SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.[3]

Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.

Diagnosis[edit]

Diagnosis is made following genetic blood testing.

Treatment[edit]


History[edit]

LWD was first described in 1929 by André Léri and Jean A. Weill.[4][5]

References[edit]

  1. ↑ "A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri–Weill Dyschondrosteosis".Am. J. Hum. Genet..October 2005;77(4)
    533–44.doi:10.1086/449313.PMID:16175500.PMC:1275603.
  2. ↑ "Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay".J. Hum. Genet..2007;52(1)
    21–7.doi:10.1007/s10038-006-0074-5.PMID:17091221.
  3. ↑ "Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis".J. Hum. Genet..2008;53(5)
    454–9.doi:10.1007/s10038-008-0269-z.PMID:18322641.
  4. ↑ synd/1662 at Who Named It?
  5. ↑ "Une affection congénitale et symétrique du développement osseux. La dyschondrostéose".Bulletins et memoires de la Société medicale des hôpitaux de Paris.1929;53
    1491–1494.

External links[edit]

Osteochondrodysplasias
Osteodysplasia/
osteodystrophy
Chondrodysplasia/
chondrodystrophy
(including dwarfism)


Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors
Stub icon

This medical article is a stub. You can help WikiMD by expanding the page.

Léri–Weill dyschondrosteosis[edit]

Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=Léri–Weill_dyschondrosteosis&oldid=6302096"