Spondyloepimetaphyseal dysplasia, Shohat type

General Information (adopted from Orphanet):

Synonyms, Signs: semd, shohat type
Number of Symptoms 52
OrphanetNr: 93352
OMIM Id: 602557
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
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:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
2
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
3
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
4
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
5
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
6
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
7
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
8
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
9
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
10
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
11
 (HPO:0002812) Coxa vara 58 / 7739
12
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
13
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
14
 (HPO:0008417) Vertebral hypoplasia 6 / 7739
15
 (HPO:0008450) Narrow vertebral interpedicular distance 6 / 7739
16
 (HPO:0003015) Flared metaphysis 44 / 7739
17
 (HPO:0000926) Platyspondyly 150 / 7739
18
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
19
 (HPO:0100864) Short femoral neck 36 / 7739
20
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
21
 (HPO:0001388) Joint laxity 117 / 7739
22
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
23
 (HPO:0001591) Bell-shaped thorax 35 / 7739
24
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
25
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
26
 (HPO:0003099) Fibular overgrowth 2 / 7739
27
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
28
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
29
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
30
 (HPO:0008463) Central vertebral hypoplasia 1 / 7739
31
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
32
 (HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
33
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
34
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
35
 (HPO:0004565) Severe platyspondyly 13 / 7739
36
 (HPO:0000773) Short ribs 70 / 7739
37
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
38
 (HPO:0003270) Abdominal distention 46 / 7739
39
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
40
 (HPO:0004298) Abnormality of the abdominal wall 20 / 7739
41
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
42
 (HPO:0003498) Disproportionate short stature 28 / 7739
43
 (OMIM) Severe lumbar lordosis 1 / 7739
44
 (OMIM) Mild interpedicular narrowing 1 / 7739
45
 (OMIM) Hepatomegaly, mild 8 / 7739
46
 (OMIM) Squared vertebrae (childhood) 1 / 7739
47
 (OMIM) Short limbs 17 / 7739
48
 (OMIM) Short ilia 3 / 7739
49
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
 (OMIM) Splayed ribs 1 / 7739
51
 (OMIM) Mild splenomegaly 6 / 7739
52
 (OMIM) Flat acetabulae 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shohat et al. (1993) described 3 patients, 2 brothers and a son of their male cousin, with spondyloepimetaphyseal dysplasia (SEMD). All 3 boys had severe short stature, short neck, small chest, distended abdomen, lumbar lordosis, and marked genu ...