ORPHA:36
Acrocallosal syndrome
Synonyms: ACS
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrocallosal syndrome | ACS |
| fr | Syndrome acrocalleux | = en |
| de | Akrokallosal-Syndrom | = en |
| es | Síndrome acrocalloso | |
| it | Sindrome acrocallosa | = en |
| nl | Acrocallosaal syndroom | = en |
| pt | Síndrome acrocalosal | |
| pl | Zespół kończyny-ciało modzelowate | = en |
| cs | Akrokalózní syndrom | = en |
| uk | Акрокаллозальний синдром | = en |
| zh | 肢端胼胝体综合征 | = en |
| tr | Akrokallosal sendrom | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200990 | E | validated | |
| ICD-10 | Q04.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008708 | E | validated | |
| MeSH | D055673 | E | validated | |
| UMLS | C0796147 | E | validated | |
| GARD | 5721 | E | validated | |
| MedDRA | 10083865 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- 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 - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4319 | ENSG00000106571 | 165240 | 7p14.1 | GLI family zinc finger 3 | 23633388[PMID]_12414818[PMID] |
| KIF7 | Disease-causing germline mutation(s) in | Assessed | HGNC:30497 | ENSG00000166813 | 611254 | 15q26.1 | kinesin family member 7 | 21552264[PMID]_23142271[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 22696705[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22696705[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.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000316 | Hypertelorism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000256 | Macrocephaly | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000269 | Prominent occiput | |
| HP:0000340 | Sloping forehead | |
| HP:0001199 | Triphalangeal thumb | |
| Occasional (29-5%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000098 | Tall stature | |
| HP:0000260 | Wide anterior fontanel | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36
- This record as JSON: /data/d/36.json