Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type | |
| fr | Dysplasie spondylo-métaphysaire autosomique récessive type Mégarbané | |
| de | Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané | |
| es | Displasia espondilometafisaria autosómica recesiva, tipo Mégarbané | |
| it | Displasia spondilometafisaria autosomica recessiva, tipo Mégarbané | |
| nl | Autosomaal recessieve spondylometafysaire dysplasie, Mégarbané-type | |
| pt | Displasia espondilometafisária autossómica recessiva, tipo Mégarbané | |
| pl | Autosomalna recesywna dysplazja kręgowo-przynasadowa, typ Mégarbané | |
| cs | Autozomálně recesivní spondylometafyzární dysplázie, Mégarbanéův typ | |
| uk | Аутосомно-рецесивна спондилометафізарна дисплазія, тип Мегарбане | |
| zh | MÚgarbanÚ型常染色体隐性遗传脊椎干骺端发育不良 | |
| tr | Otozomal resesif spondilometafizyal displazi, Megarbane tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613320 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | attributed | validated |
| MONDO | 0013223 | E | validated | |
| UMLS | C5190608 | 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:93434Spondylodysplastic 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 |
|---|---|---|---|---|---|---|---|---|
| PAM16 | Disease-causing germline mutation(s) in | Assessed | HGNC:29679 | ENSG00000217930 | 614336 | 16p13.3 | presequence translocase associated motor 16 | 24786642[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 18925669[PMID]_2445848[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18925669[PMID]_2445848[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401979
- This record as JSON: /data/d/401979.json