Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Neonatal
- Status
- historical
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome | |
| fr | Syndrome de microbrachycéphalie sévère-déficience intellectuelle-paralysie cérébrale athétosique | |
| de | Schwere Mikrobrachyzephalie-Intelligenzminderung-athetoide Zerebralparese-Syndrom | |
| es | Síndrome grave de microbraquicefalia-discapacidad intelectual-parálisis cerebral atetoide | |
| it | Sindrome da microbrachicefalia, disabilità intellettiva, paralisi cerebrale atetoide | |
| nl | Ernstige microbrachycefalie - intellectuele achterstand - athetoïde cerebrale parese-syndroom | |
| pt | Síndrome de microbraquicefalia grave-perturbação do desenvolvimento intelectual-paralisia cerebral atetoide | |
| pl | Zespół małogłowia z krótkogłowiem, niepełnosprawności intelektualnej i mózgowego porażenia atetoidalnego | Zespół Bd |
| cs | Syndrom zahrnující těžkou mikrobrachycefalii, mentální retardaci a athetoidní mozkovou obrnu | |
| uk | Синдром важкої мікробрахіцефалії - інтелектуальної недостатності - атетозного церебрального паралічу | |
| zh | 重度小头短头畸形-智力障碍-手足徐动症样大脑麻痹综合征 | |
| tr | ağır mikrobrakisefali-zihinsel yetersizlik-atetoid serebral palsi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015252 | E | validated | |
| UMLS | C5190778 | E | validated | |
| GARD | 3482 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 1609828[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1609828[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
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0100022 | Abnormality of movement | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0011304 | Broad thumb | |
| HP:0010751 | Chin dimple | |
| HP:0100543 | Cognitive impairment | |
| HP:0002006 | Facial cleft | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0000668 | Hypodontia | |
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0009748 | Large earlobe | |
| HP:0000252 | Microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000592 | Blue sclerae | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000324 | Facial asymmetry | |
| HP:0000612 | Iris coloboma | |
| HP:0100267 | Lip pit | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1236
- This record as JSON: /data/d/1236.json