Spondylometaphyseal dysplasia, A4 type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr: 168555
OMIM Id: 609052
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylometaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000268) Dolichocephaly 144 / 7739
2
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
3
 (HPO:0008076) Osteoporotic tarsals 1 / 7739
4
 (HPO:0004979) Metaphyseal sclerosis 5 / 7739
5
 (HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
6
 (HPO:0003180) Flat acetabular roof 25 / 7739
7
 (HPO:0001591) Bell-shaped thorax Occasional [Orphanet] 35 / 7739
8
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
9
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
10
 (HPO:0002673) Coxa valga 57 / 7739
11
 (HPO:0003918) Sclerotic humeral metaphysis 1 / 7739
12
 (HPO:0006369) Irregular patellae 1 / 7739
13
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
14
 (HPO:0000768) Pectus carinatum 136 / 7739
15
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
16
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
17
 (HPO:0003016) Metaphyseal widening 41 / 7739
18
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
19
 (HPO:0005041) Irregular capital femoral epiphysis 5 / 7739
20
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
21
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
22
 (HPO:0004699) Osteoporotic metatarsal 1 / 7739
23
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
24
 (HPO:0100865) Broad ischia 4 / 7739
25
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
26
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
27
 (HPO:0006623) Costochondral joint sclerosis 1 / 7739
28
 (HPO:0003510) Severe short stature 90 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (OMIM) Small, irregular capital femoral epiphyses 2 / 7739
33
 (MedDRA:10072883) Brachydactyly 153 / 7739
34
 (OMIM) Anterior tongue-like deformity 1 / 7739
35
 (OMIM) Bipartite trochlea 1 / 7739
36
 (OMIM) Widened, irregular, sclerotic metaphyses (humeri, radii, ulnae, femoral neck) 1 / 7739
37
 (OMIM) Short iliac wings 1 / 7739
38
 (OMIM) Widened, sclerotic costochondral joints 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: