Langer mesomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE
DYSCHONDROSTEOSIS, HOMOZYGOUS
LMD
Mesomelic dwarfism, Langer type
Number of Symptoms 28
OrphanetNr: 2632
OMIM Id: 249700
ICD-10: Q87.1
UMLs: C0432230
MeSH: C537267
MedDRA:
Snomed: 38494008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
2
 (HPO:0000308) Microretrognathia Occasional [Orphanet] 78 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
5
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
6
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
7
 (HPO:0003993) Broad ulna 1 / 7739
8
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
9
 (HPO:0003067) Madelung deformity Very frequent [Orphanet] 9 / 7739
10
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
11
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
12
 (HPO:0006436) Shortening of the tibia 2 / 7739
13
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
14
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
15
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
16
 (HPO:0100864) Short femoral neck 36 / 7739
17
 (HPO:0002986) Radial bowing 27 / 7739
18
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
19
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
20
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
21
 (HPO:0008845) Mesomelic short stature 5 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (OMIM) short, broad ulna 1 / 7739
24
 (HPO:0006381) Rudimentary fibula 4 / 7739
25
 (OMIM) Normal intelligence 81 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Dorsolateral bowed, short radii 1 / 7739
28
 (OMIM) Laterally angulated tibia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. ...
Diagnosis OMIM Evans et al. (1988) demonstrated that Langer mesomelic dwarfism can be diagnosed in the second trimester by sonography. They also reported the pathologic changes in a second trimester abortion case. This was from an at-risk pregnancy of a ...
Clinical Description OMIM Book (1950) reported an affected kindred from northern Sweden in which the parents of the proband were first cousins. Heterozygotes in this kindred were short (the father was 160 cm and the mother 150 cm) and had relatively ...
Molecular genetics OMIM Belin et al. (1998) described a family in which 4 individuals in 2 generations had Leri-Weill dyschondrosteosis (LWD; 127300) associated with heterozygous deletion of the pseudoautosomal gene SHOX (312865.0003). A woman in this family with classic LWD was ...