Spondyloepimetaphyseal dysplasia, matrilin-3 type

General Information (adopted from Orphanet):

Synonyms, Signs: SEMD, matrilin-3 type
semd, matn3-related
Number of Symptoms 27
OrphanetNr: 156728
OMIM Id: 608728
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002515) Waddling gait 56 / 7739
2
(HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
3
(HPO:0010582) Irregular epiphyses 19 / 7739
4
(HPO:0008794) Dysplastic iliac wings 1 / 7739
5
(HPO:0002979) Bowing of the legs 28 / 7739
6
(HPO:0002868) Narrow iliac wings 15 / 7739
7
(HPO:0002938) Lumbar hyperlordosis 73 / 7739
8
(HPO:0000926) Platyspondyly 15121775 IBIS 150 / 7739
9
(HPO:0005054) Metaphyseal spurs 4 / 7739
10
(HPO:0000922) Posterior rib cupping 6 / 7739
11
(HPO:0003180) Flat acetabular roof 25 / 7739
12
(HPO:0002983) Micromelia 130 / 7739
13
(HPO:0003173) Hypoplastic pubic bone 8 / 7739
14
(HPO:0001377) Limited elbow extension 38 / 7739
15
(HPO:0001248) Short tubular bones of the hand 4 / 7739
16
(HPO:0010585) Small epiphyses 16 / 7739
17
(HPO:0003016) Metaphyseal widening 41 / 7739
18
(HPO:0005257) Thoracic hypoplasia 79 / 7739
19
(HPO:0003026) Short long bone 51 / 7739
20
(HPO:0003300) Ovoid vertebral bodies 15121775 IBIS 21 / 7739
21
(HPO:0008873) Disproportionate short-limb short stature 39 / 7739
22
(OMIM) Flat oval-shaped vertebral bodies 1 / 7739
23
(OMIM) Short limbs 17 / 7739
24
(OMIM) Wide metaphyses with lateral spurs 1 / 7739
25
(OMIM) Irregular, small epiphyses 6 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(OMIM) Underossified ischia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Borochowitz et al. (2004) described a large consanguineous Arab Muslim family with autosomal recessive spondyloepimetaphyseal dysplasia. Affected individuals presented with disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis, and normal hands. Skeletal findings included short, wide, ...
Molecular genetics OMIM In affected members of a consanguineous Arab family segregating SEMD, Borochowitz et al. (2004) identified homozygosity for a cys304-to-ser mutation in the MATN3 gene (602109.0005). Heterozygotes in the family had no clinical or radiographic abnormalities.