Léri–Weill dyschondrosteosis

Other names| LWD
Léri–Weill dyschondrosteosis is inherited in an autosomal dominant manner

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]

## Contents

* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 History
* 5 References
* 6 External links

## Causes

It is caused by mutations in the short-stature homeobox 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.[citation needed]

## Diagnosis

Diagnosis is made following genetic blood testing.[citation needed]

## Treatment

## History

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

## References

1. ↑ "A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri–Weill Dyschondrosteosis". Am. J. Hum. Genet. 77 (4): 533–44. October 2005. doi:10.1086/449313. PMID 16175500.
2. ↑ "Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay". J. Hum. Genet. 52 (1): 21–7. 2007. 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. 53 (5): 454–9. 2008. 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 Mémoires de la Société Médicale des Hôpitaux de Paris 53: 1491–1494. 1929.

## External links

Classification|

* ICD-10: Q77.8
* ICD-9-CM: 756.59
* OMIM: 127300
* DiseasesDB: 31950

|

External resources|

* GeneReviews: SHOX-Related Haploinsufficiency Disorders
* Orphanet: 240

* v
* t
* e

Osteochondrodysplasia

Osteodysplasia//
osteodystrophy|

| Diaphysis|

* Camurati–Engelmann disease

|

Metaphysis|

* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia

Epiphysis|

* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia

Osteosclerosis|

* Raine syndrome
* Osteopoikilosis
* Osteopetrosis

Other/ungrouped|

* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome

Chondrodysplasia/
chondrodystrophy
(including dwarfism)|

| Osteochondroma|

* osteochondromatosis
* Hereditary multiple exostoses

|

Chondroma/enchondroma|

* enchondromatosis
* Ollier disease
* Maffucci syndrome

Growth factor receptor|

| FGFR2:|

* Antley–Bixler syndrome

|

FGFR3:|

* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia

COL2A1 collagen disease|

* Achondrogenesis
* type 2
* Hypochondrogenesis

SLC26A2 sulfation defect|

* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia

Chondrodysplasia punctata|

* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome

Other dwarfism|

* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis

* v
* t
* e

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains|

| 1.2|

* Feingold syndrome
* Saethre–Chotzen syndrome

|

1.3|

* Tietz syndrome

(2) Zinc finger
DNA-binding domains|

| 2.1|

* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis

|

2.2|

* Barakat syndrome
* Tricho–rhino–phalangeal syndrome

2.3|

* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2

2.5|

* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains|

| 3.1|

* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome

|

3.2|

* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3

3.3|

* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX

3.5|

* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts|

| 4.2|

* Hyperimmunoglobulin E syndrome

|

4.3|

* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome

4.7|

* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome

4.11|

* Cleidocranial dysostosis

(0) Other transcription factors|

| 0.6|

* Kabuki syndrome

|

Ungrouped|

* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8

Transcription coregulators|

| Coactivator:|

* CREBBP
* Rubinstein–Taybi syndrome

|

Corepressor:|

* HR (Atrichia with papular lesions)

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