Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | |
| fr | Syndrome de dysplasie métaphysaire-dysmorphie-brachydactylie | |
| de | Metaphysäre Dysplasie-Maxillahypoplasie-Brachydaktylie-Syndrom | |
| es | Síndrome de displasia metafisaria-hipoplasia maxilar-braquidactilia | |
| it | Displasia metafisaria - ipoplasia mascellare - brachidattilia | |
| nl | Metafysaire dysplasie - maxillaire hypoplasie - brachydactylie-syndroom | |
| pt | Síndrome de displasia metafisária-hipoplasia maxilar-braquidactilia | |
| pl | Dysplazja przynasadowa - hipoplazja szczęki - brachydaktylia | |
| cs | Syndrom zahrnující metafyzární dysplázii, hypoplázii maxily a brachydaktylii | |
| uk | Синдром метафізарної дисплазії-гіпоплазії верхньої щелепи-брахідактилії | |
| zh | 干骺端发育不良-上颌骨发育不足-短指畸形综合征 | |
| tr | Metafizyel displazi-maksiller hipoplazi-brakidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156510 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | index | validated |
| MONDO | 0007984 | E | validated | |
| UMLS | C4510380 | E | validated | |
| GARD | 3568 | 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:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RUNX2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10472 | ENSG00000124813 | 600211 | 6p21.1 | RUNX family transcription factor 2 | 23290074[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 23290074[PMID] | |
| 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/2504
- This record as JSON: /data/d/2504.json