Spondyloepimetaphyseal dysplasia, Maroteaux type
Synonyms: Pseudo-Morquio syndrome type 2 · Pseudo-Morquio type II syndrome · SEMD, Maroteaux type · SEMD-M
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, Maroteaux type | Pseudo-Morquio syndrome type 2 · Pseudo-Morquio type II syndrome · SEMD, Maroteaux type · SEMD-M |
| fr | Dysplasie spondylo-épimétaphysaire type Maroteaux | SEMD type Maroteaux · SEMD-M · Syndrome pseudo-Morquio type 2 |
| de | Dysplasie, spondyloepiphysäre, Typ Maroteaux | Pseudo-Morquio-Syndrom Typ 2 · SEMD, Maroteaux-Typ · SEMD-M |
| es | Displasia espondiloepimetafisaria tipo Maroteaux | SEMD tipo Maroteaux · SEMD-M · Síndrome pseudo-Morquio tipo 2 · Síndrome pseudo-Morquio tipo II |
| it | Displasia spondiloepimetafisaria tipo Maroteaux | SEMD, tipo Maroteaux · SEMD-M · Sindrome pseudo-Morquio tipo 2 · Sindrome pseudo-Morquio tipo II · Sindrome pseudo-Morquio, tipo 2 |
| nl | Spondylo-epifysaire dysplasie, Maroteaux-type | Pseudo-Morquio-syndroom type 2 · Pseudo-Morquio-syndroom type II · SEMD, Maroteaux-type · SEMD-M |
| pt | Displasia espondiloepifisária, tipo Maroteaux | Síndrome pseudo-Morquio tipo 2 · Síndrome pseudo-Morquio tipo II · SEMD, tipo Maroteaux · SEMD-M |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa typu Maroteaux | Zespół pseudo-Morquio typu 2 |
| cs | Spondyloepifyzární dysplázie, Maroteauxův typ | Pseudo-Morquioův syndrom, typ 2 |
| uk | Спондилоепіметафізарна дисплазія, тип Марото | Синдром псевдо-Моркіо, тип 2 · Синдром псевдо-Моркіо типу II · SEMD, тип Maroteaux · SEMD-M |
| zh | 脊椎骨骺发育不良，Maroteaux型 | 假性Morquio综合征2型 |
| tr | Spondiloepifizeal displazi, Maroteaux tipi | Psedö-Morquio sendromu tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184095 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0008473 | E | validated | |
| UMLS | C3159322 | E | validated | |
| GARD | 994 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364820TRPV4-related bone disorder
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2646Parastremmatic dysplasia moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 20503319[PMID]_24830047[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263482
- This record as JSON: /data/d/263482.json