Brachyolmia, Maroteaux type
historical
Synonyms: Brachyolmia type 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare brachyolmia characterized by short stature with a high upper-to-lower segment ratio and relatively long arms. Mild scoliosis is typically present. Radiographically, it is distinct from other types of brachyolmia, showing rounded anterior and posterior vertebral margins and variable intervertebral space widths (narrowed or broadened). Some patients also exhibit precocious ossification of the falx cerebri, metaphyseal irregularities, and small epiphyses of the proximal femora. Additional clinical features may include widely spaced nipples, clinodactyly, hypoplastic nails, pectus excavatum, joint hyperlaxity, subtle facial dysmorphism (such as a flat nose and thick lips), and mild intellectual disability. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachyolmia, Maroteaux type | Brachyolmia type 2 |
| fr | Brachyolmie type Maroteaux | Brachyolmie type 2 |
| de | Brachyolmie Typ 2 | Brachyolmie Typ Maroteaux |
| es | Braquiolmia tipo 2 | Braquiolmia tipo Maroteaux |
| it | Brachiolmia tipo Mariteaux | Brachiolmia, tipo Maroteaux |
| nl | Brachyolmie, Maroteaux-type | Brachyolmie type 2 |
| pt | Braquiolmia tipo Maroteaux | |
| pl | Brachyolmia, typu Maroteaux | Brachyolmia typu 2 |
| cs | Brachyolmie, Maroteauxův typ | Brachyolmie, typ 2 |
| uk | Брахіолмія, тип Марото | Брахіолмія типу 2 |
| zh | 短躯干症，Maroteaux型 | 短躯干症2型 |
| tr | Brakiyolmi, Maroteaux tipi | Brakiyolmi tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613678 | E | validated | |
| ICD-10 | Q76.4 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0013360 | E | validated | |
| MeSH | C563218 | E | validated | |
| UMLS | C5399913 | 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:1293Brachyolmia
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 | 4 families | Worldwide | Family(ies) | Validated | 2669482[PMID]_20503319[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2669482[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000926 | Platyspondyly | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| Frequent (79-30%) | ||
| HP:0000767 | Pectus excavatum | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0010653 | Abnormality of the falx cerebri | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93302
- This record as JSON: /data/d/93302.json