Léri-Weill dyschondrosteosis

General Information (adopted from Orphanet):

Synonyms, Signs: DCO MADELUNG DEFORMITY, INCLUDED
DYSCHONDROSTEOSIS
LWD
Léri-Weill syndrome
Number of Symptoms 56
OrphanetNr: 240
OMIM Id: 127300
ICD-10: Q77.8
UMLs: C0265309
MeSH: C537119
MedDRA:
Snomed: 17818006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
2
(HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
3
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
4
(HPO:0000218) High palate 356 / 7739
5
(HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
6
(HPO:0002996) Limited elbow movement 16 / 7739
7
(HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
8
(HPO:0003038) Fibular hypoplasia 30 / 7739
9
(HPO:0002650) Scoliosis 705 / 7739
10
(HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
11
(HPO:0001191) Abnormality of the carpal bones 6 / 7739
12
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
13
(HPO:0010044) Short 4th metacarpal 14 / 7739
14
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
15
(HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
16
(HPO:0002984) Hypoplasia of the radius 44 / 7739
17
(HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
18
(HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
19
(HPO:0002762) Multiple exostoses 6 / 7739
20
(HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
21
(HPO:0005736) Short tibia 19 / 7739
22
(HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
23
(HPO:0002982) Tibial bowing 36 / 7739
24
(HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
25
(HPO:0003022) Hypoplasia of the ulna 40 / 7739
26
(HPO:0002673) Coxa valga 57 / 7739
27
(HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
28
(HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
29
(HPO:0001831) Short toe 52 / 7739
30
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
31
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
32
(HPO:0006248) Limited wrist movement 2 / 7739
33
(HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
34
(HPO:0001832) Abnormality of the metatarsal bones 1 / 7739
35
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
36
(HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
37
(HPO:0002986) Radial bowing 27 / 7739
38
(HPO:0003067) Madelung deformity Very frequent [Orphanet] 9 / 7739
39
(HPO:0003102) Increased carrying angle 3 / 7739
40
(HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
41
(HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
42
(HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
43
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
44
(HPO:0006459) Dorsal subluxation of ulna 2 / 7739
45
(HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
46
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
47
(HPO:0008873) Disproportionate short-limb short stature 39 / 7739
48
(HPO:0003498) Disproportionate short stature 28 / 7739
49
(HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
50
(HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
51
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
52
(OMIM) Adult height 135cm to normal 2 / 7739
53
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
54
(OMIM) Short, mildly curved tibia 2 / 7739
55
(OMIM) Bowing of the radii 3 / 7739
56
(OMIM) Limited wrist mobility 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 ...