Axial spondylometaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: SMD, AXIAL
AXIAL SMD
Number of Symptoms 34
OrphanetNr: 168549
OMIM Id: 602271
ICD-10: Q77.8
UMLs: C1865695
MeSH: C535795
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 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:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
2
(HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
3
(HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
4
(HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
5
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
6
(HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
7
(HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
8
(HPO:0000639) Nystagmus 555 / 7739
9
(HPO:0000648) Optic atrophy 238 / 7739
10
(HPO:0000613) Photophobia Occasional [Orphanet] 158 / 7739
11
(HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
12
(HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
13
(HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
14
(HPO:0003411) Proximal femoral metaphyseal irregularity 7 / 7739
15
(HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
16
(HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
17
(HPO:0001591) Bell-shaped thorax Frequent [Orphanet] 35 / 7739
18
(HPO:0000907) Anterior rib cupping 12 / 7739
19
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
20
(HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
21
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
22
(HPO:0002812) Coxa vara 58 / 7739
23
(HPO:0100864) Short femoral neck 36 / 7739
24
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
25
(HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
26
(HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
27
(HPO:0005257) Thoracic hypoplasia 79 / 7739
28
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
29
(HPO:0006532) Recurrent pneumonia 48 / 7739
30
(HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
31
(OMIM) Widened anterior ribs 2 / 7739
32
(OMIM) Lacy iliac wings 2 / 7739
33
(OMIM) Mild platyspondyly 14 / 7739
34
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ehara et al. (1997) presented a previously undescribed, probably autosomal recessive skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac ...