Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Synonyms: Da Silva syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Da Silva syndrome |
| fr | Syndrome de déficience intellectuelle-hypoplasie du corps calleux-appendice préauriculaire | Syndrome de Da Silva |
| de | Intelligenzminderung-Corpus callosum-Hypoplasie-präaurikuläre Anhängsel-Syndrom | Da-Silva-Syndrom |
| es | Síndrome de discapacidad intelectual-hipoplasia del cuerpo callosoco-apéndice preauricular | Síndrome de Da Silva |
| it | Sindrome da disabilità intellettiva-ipoplasia del corpo calloso-appendice preauricolare | Sindrome di Da Silva |
| nl | Intellectuele achterstand - hypoplastisch corpus callosum - preauriculair aanhangsel-syndroom | Syndroom van Da Silva |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipoplasia do corpo caloso-apêndice pré-auricular | Síndrome Da Silva |
| pl | Niepełnosprawność intelektualna - niedorozwój ciała modzelowatego - wyrostek przeduszny | Zespół Da Silva |
| cs | Syndrom zahrnující mentální retardaci, hypoplázii corpus callosum a preaurikulární vyrůstek | Da Silvaův syndrom |
| uk | Синдром інтелектуальної недостатності-гіпопластичного мозолистого тіла-преаурикулярного виросту | Синдром Да Сілва |
| zh | 智力障碍-胼胝体发育不良-耳前赘综合征 | Da Silva综合征 |
| tr | Zihinsel yetersizlik-korpus kallosum hipoplazisi-kulak önü deri katlantısı sendromu | Da Silva sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015458 | E | validated | |
| UMLS | C4302530 | E | validated | |
| GARD | 12487 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
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 | 3 cases | Worldwide | Case(s) | Validated | 3400727[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3400727[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000411 | Protruding ear | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001522 | Death in infancy | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0001883 | Talipes | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000348 | High forehead | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1495
- This record as JSON: /data/d/1495.json