Axial spondylometaphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Axial spondylometaphyseal dysplasia | |
| fr | Dysplasie spondylo-métaphysaire axiale | |
| de | Dysplasie, spondyloepimetaphysäre, axiale Form | |
| es | Displasia espondilometafisaria axial | |
| it | Displasia spondilometafisaria assiale | |
| nl | Axiale spondylometafysaire dysplasie | |
| pt | Displasia espondilometafisária axial | |
| pl | Osiowa dysplazja kręgowo-przynasadowa | |
| cs | Axiální spondylometafyzární dysplázie | |
| uk | Аксіальна спондилометафізарна дисплазія | |
| zh | 轴性椎体干骺端发育不良 | |
| tr | Eksenel spondilometafizeal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602271 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0011211 | E | validated | |
| MeSH | C535795 | E | validated | |
| UMLS | C1865695 | E | validated | |
| GARD | 8720 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 26974433[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26974433[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
47 annotations · validated 2021-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002867 | Abnormality of the ilium | |
| HP:0045027 | Abnormality of the thoracic cavity | |
| HP:0000887 | Cupped ribs | |
| HP:0000886 | Deformed rib cage | |
| HP:0001510 | Growth delay | |
| HP:0008786 | Iliac crest serration | |
| HP:0000774 | Narrow chest | |
| HP:0006431 | Proximal femoral metaphyseal abnormality | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000773 | Short ribs | |
| HP:0004322 | Short stature | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0009824 | Upper limb undergrowth | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0006712 | Aplasia/Hypoplasia of the ribs | |
| HP:0008515 | Aplasia/Hypoplasia of the vertebrae | |
| HP:0002812 | Coxa vara | |
| HP:0006603 | Flared, irregular rib ends | |
| HP:0006589 | Flaring of lower rib cage | |
| HP:0008812 | Flattened femoral head | |
| HP:0012774 | Increased upper to lower segment ratio | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000926 | Platyspondyly | |
| HP:0003411 | Proximal femoral metaphyseal irregularity | |
| HP:0011947 | Respiratory tract infection | |
| Occasional (29-5%) | ||
| HP:0003086 | Acromesomelia | |
| HP:0000646 | Amblyopia | |
| HP:0000518 | Cataract | |
| HP:0001216 | Delayed ossification of carpal bones | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0007641 | Dyschromatopsia | |
| HP:0003180 | Flat acetabular roof | |
| HP:0002866 | Hypoplastic iliac wing | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0003375 | Narrow greater sciatic notch | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000938 | Osteopenia | |
| HP:0007769 | Peripheral retinal degeneration | |
| HP:0000613 | Photophobia | |
| HP:0008444 | Posterior wedging of vertebral bodies | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0100864 | Short femoral neck | |
| HP:0002943 | Thoracic scoliosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23371363[PMID]_26974433[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168549
- This record as JSON: /data/d/168549.json