Short stature, Brussels type
historical
Synonyms: Mievis-Verellen-Dumoulin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature, Brussels type | Mievis-Verellen-Dumoulin syndrome |
| fr | Petite taille type Bruxelles | Syndrome de Mievis-Verellen-Dumoulin |
| de | Kleinwuchs Typ Brüssel | Mievis-Verellen-Dumounin-Syndrom |
| es | Talla baja tipo Bruselas | Síndrome de Mievis-Verellen-Dumounin |
| it | Bassa statura, tipo Bruxelles | Sindrome di Mievis-Verellen-Dumounin |
| nl | Kleine gestalte, Brussel-type | Syndroom van Mievis-Verellen-Dumoulin |
| pt | Baixa estatura tipo Bruxelas | Síndrome de Mievis-Verellen-Dumoulin |
| pl | Niski wzrost typu Brussels | Zespół Mievisa, Verellena i Dumoulina |
| cs | Malý vzrůst, bruselský typ | Mievisův-Verellen-Dumoulinové syndrom · Mievis-Verellen-Dumoulinové syndrom |
| uk | Низькорослість, брюссельського типу | Синдром Мєвіса-Вереллена-Дюмулена |
| zh | 身材矮小症，Brussels型 | Mievis-Verellen-Dumoulin综合征 |
| tr | Kısa boy, Brüksel tipi | Mievis-Verellen-Dumoulin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601350 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0011046 | E | validated | |
| MeSH | C537121 | E | validated | |
| UMLS | C1832439 | E | validated | |
| GARD | 4838 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
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 | 2 cases | Worldwide | Case(s) | Validated | 8867654[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8867654[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
10 annotations · validated 2016-12-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001510 | Growth delay | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0100593 | Calcification of cartilage | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000256 | Macrocephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0000325 | Triangular face | |
Annotation source: 8867654[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2867
- This record as JSON: /data/d/2867.json