Spondyloepimetaphyseal dysplasia, Irapa type
historical
Synonyms: SEMD, Irapa type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. There have been no further description in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, Irapa type | SEMD, Irapa type |
| fr | Dysplasie spondylo-épimétaphysaire type Irapa | SEMD, type Irapa |
| de | Dysplasie, spondyloepimetaphysäre, Typ Irapa | SEMD Typ Irapa |
| es | Displasia espondiloepimetafisaria tipo Irapa | SEMD tipo Irapa |
| it | Displasia spondiloepimetafisaria, tipo Irapa | SEMD, tipo Irapa |
| nl | Spondylo-epimetafysaire dysplasie, Irapa-type | SEMD, Irapa-type |
| pt | Displasia espondilometafisária, tipo Irapa | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa typu Irapa | SEMD typu Irapa · SEMD, typ Irapa |
| cs | Spondyloepimetafyzární dysplázie, typ Irapa | SEMD, typ Irapa |
| uk | Спондилоепіметафізарна дисплазія, тип Ірапа | SEMD, тип Irapa |
| zh | 脊椎干骺端发育不良，Irapa型 | SEMD，Irapa型 |
| tr | Spondiloepimetafizyal displazi, Irapa tipi | SEMD, Irapa tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271650 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010076 | E | validated | |
| MeSH | C562958 | E | validated | |
| UMLS | C0432213 | 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 (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6772027[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001367 | Abnormal joint morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002829 | Arthralgia | |
| HP:0001769 | Broad foot | |
| HP:0001169 | Broad palm | |
| HP:0002812 | Coxa vara | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0001288 | Gait disturbance | |
| HP:0002857 | Genu valgum | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002983 | Micromelia | |
| HP:0002758 | Osteoarthritis | |
| HP:0000768 | Pectus carinatum | |
| HP:0001763 | Pes planus | |
| HP:0000926 | Platyspondyly | |
| HP:0004279 | Short palm | |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
| HP:0009824 | Upper limb undergrowth | |
| Frequent (79-30%) | ||
| HP:0008839 | Hypoplastic pelvis | |
| HP:0000939 | Osteoporosis | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| Occasional (29-5%) | ||
| HP:0001191 | Abnormal carpal morphology | |
| HP:0005048 | Synostosis of carpal bones | |
Annotation source: 6772027[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93351
- This record as JSON: /data/d/93351.json