Madelung deformity

General Information (adopted from Orphanet):

Synonyms, Signs: DCO MADELUNG DEFORMITY, INCLUDED
DYSCHONDROSTEOSIS
LWD
Number of Symptoms 33
OrphanetNr: 35688
OMIM Id: 127300
ICD-10: Q74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Joint formation defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0100745) Abnormality of the humeroulnar joint Very frequent [Orphanet] 4 / 7739
4
(HPO:0100777) Exostoses Frequent [Orphanet] 32 / 7739
5
(HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
6
(HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
7
(HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
8
(HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
9
(HPO:0003027) Mesomelia Occasional [Orphanet] 58 / 7739
10
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
11
(HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
12
(HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
13
(HPO:0002996) Limited elbow movement 16 / 7739
14
(HPO:0003102) Increased carrying angle 3 / 7739
15
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
16
(HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
17
(HPO:0003067) Madelung deformity Very frequent [Orphanet] 9 / 7739
18
(HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
19
(HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
20
(HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
21
(HPO:0006459) Dorsal subluxation of ulna 2 / 7739
22
(HPO:0002992) Abnormality of the tibia Occasional [Orphanet] 51 / 7739
23
(HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
24
(HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
25
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
26
(HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
27
(HPO:0003498) Disproportionate short stature 28 / 7739
28
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
29
(OMIM) Short, mildly curved tibia 2 / 7739
30
(OMIM) Bowing of the radii 3 / 7739
31
(HPO:0040064) Abnormality of limbs Frequent [Orphanet] 16 / 7739
32
(OMIM) Limited wrist mobility 2 / 7739
33
(OMIM) Adult height 135cm to normal 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in ...
Diagnosis OMIM Ogata et al. (2001) reviewed the clinical features and diagnostic and therapeutic implications of SHOX haploinsufficiency and overdosage. They suggested that identification of Madelung deformity is important in the clinical diagnosis of SHOX haploinsufficiency and that gonadal suppression ...
Clinical Description OMIM The disorder was first described by Leri and Weill (1929). Lamy and Bienenfeld (1954) described affected mother and son. The fibula was absent in both.

Langer (1965) reported 3 families. The deformity of the forearm consists ...

Genotype-Phenotype Correlations OMIM Schiller et al. (2000) studied 32 patients with Leri-Weill dyschondrosteosis from 18 different German and Dutch families and presented clinical, radiologic, and molecular data. Phenotypic manifestations were generally more severe in females. In males, muscular hypertrophy was a ...
Molecular genetics OMIM Leri-Weill dyschondrosteosis can be defined genetically by haploinsufficiency of the SHOX gene. Belin et al. (1998) and Shears et al. (1998) showed that Leri-Weill dyschondrosteosis is linked to DNA markers in the pseudoautosomal region (PAR1) on the X ...
Diagnosis GeneReviews Short stature homeobox (SHOX) haploinsufficiency disorders range from Leri-Weill dyschondrosteosis (LWD) at the more severe end of the spectrum to SHOX-related short stature at the mild end of spectrum. ...
Clinical Description GeneReviews Short stature. In an analysis of 26 individuals with LWD and documented SHOX-related haploinsufficiency and review of 129 individuals with SHOX-related haploinsufficiency identified in the literature, Munns et al [2003b] reported a progressive decline in the height standard deviation score (SDS) from birth (-1.05), through childhood (female -2.23, male -2.10) and into final adult height (female -2.84, male -2.36). In a longitudinal analysis of seven females with SHOX-related haploinsufficiency, Fukami et al [2004] found a similar height reduction of 0.6 SDS between childhood and final adult height. The loss in height SD may reflect a blunted pubertal growth spurt caused by the presence of estrogen that has accelerated maturation of the epiphyseal cartilage [Munns et al 2003b, Fukami et al 2004]. Nonetheless, before a definitive statement on the growth pattern associated with LWD can be made, more comprehensive longitudinal studies are required. ...
Genotype-Phenotype Correlations GeneReviews No correlation between the severity of phenotype and the underlying SHOX mutation has been found [Clement-Jones et al 2000, Schiller et al 2000, Grigelioniene et al 2001, Ross et al 2001, Munns et al 2003b]. ...
Differential Diagnosis GeneReviews The differential diagnosis of SHOX-related short stature includes the following:...
Management GeneReviews Physical examination with attention to the following is indicated: ...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....