Acromesomelic dysplasia, Maroteaux type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acromesomelic dysplasia, Maroteaux type | |
| fr | Dysplasie acromésomélique type Maroteaux | |
| de | Dysplasie, akromesomele, Typ Maroteaux | |
| es | Displasia acromesomélica tipo Maroteaux | |
| it | Displasia acromesomelica, tipo Maroteaux | |
| nl | Acromesomele dysplasie, Maroteaux-type | Acromesomelische dysplasie, Maroteaux-type |
| pt | Displasia acromesomélica, tipo Maroteaux | |
| pl | Dysplazja akromezomeliczna typu Maroteaux | |
| cs | Akromesomelická dysplázie, Maroteauxův typ | |
| uk | Акромезотеліальна дисплазія, тип Марото | |
| zh | 肢端肢中发育不良，Maroteaux型 | |
| tr | Akromezomelik displazi, Maroteaux tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602875 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.9 | NTBT | index | validated |
| MONDO | 0011275 | E | validated | |
| MeSH | C535661 | E | validated | |
| UMLS | C1864356 | E | validated | |
| GARD | 507 | 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:93437Acromesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:953OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7944 | ENSG00000159899 | 108961 | 9p13.3 | natriuretic peptide receptor 2 | 22691581[PMID]_15146390[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0003086 | Acromesomelia | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001156 | Brachydactyly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003498 | Disproportionate short stature | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0003307 | Hyperlordosis | |
| HP:0001382 | Joint hypermobility | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0011220 | Prominent forehead | |
| HP:0002650 | Scoliosis | |
| HP:0000912 | Sprengel anomaly | |
| HP:0008422 | Vertebral wedging | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/40
- This record as JSON: /data/d/40.json