Intellectual disability, Buenos-Aires type
Synonyms: Mutchinick syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability, Buenos-Aires type | Mutchinick syndrome |
| fr | Déficience intellectuelle type Buenos-Aires | Syndrome de Mutchinick |
| de | Intelligenzminderung Typ Buenos-Aires | Mutchinick-Syndrom |
| es | Discapacidad intelectual tipo Buenos Aires | Síndrome de Mutchinick |
| it | Disabilità intellettiva, tipo Buenos Aires | Sindrome di Mutchinick |
| nl | Intellectuele achterstand, Buenos Aires-type | Syndroom van Mutchinick |
| pt | Perturbação do desenvolvimento intelectual, tipo Buenos Aires | Síndrome Mutchinick |
| pl | Niepełnosprawność intelektualna typu Buenos-Aires | Zespół Mutchinicka |
| cs | Mentální retardace, typ Buenos-Aires | Mutchinickův syndrom |
| uk | Інтелектуальна недостатність, тип Буенос-Айреса | Синдром Мутчініка |
| zh | 智力障碍，Buenos-Aires亚型 | Mutchinick综合征 |
| tr | Zihinsel yetersizlik, Buenos-Aires tipi | Mutchinick sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249630 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0009584 | E | validated | |
| MeSH | C563095 | E | validated | |
| UMLS | C0796080 | E | validated | |
| GARD | 3485 | E | validated | |
| MedDRA | 10089183 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic 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 | 5 cases | Worldwide | Case(s) | Validated | 5025484[PMID]_10190479[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5025484[PMID]_10190479[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0004422 | Biparietal narrowing | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008425 | Cuboid-shaped thoracolumbar vertebral bodies | |
| HP:0000689 | Dental malocclusion | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002213 | Fine hair | |
| HP:0000218 | High palate | |
| HP:0008407 | Hyperconvex thumb nails | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0010807 | Open bite | |
| HP:0000768 | Pectus carinatum | |
| HP:0000613 | Photophobia | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| HP:0002064 | Spastic gait | |
| HP:0001537 | Umbilical hernia | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000126 | Hydronephrosis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3079
- This record as JSON: /data/d/3079.json