Macrocephaly-intellectual disability-autism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-intellectual disability-autism syndrome | |
| fr | Syndrome de macrocéphalie-déficience intellectuelle-autisme | |
| de | Makrozephalie-Intelligenzminderung-Autismus-Syndrom | |
| es | Síndrome de macrocefalia-discapacidad intelectual-autismo | |
| it | Sindrome da macrocefalia, disabilità intellettiva, autismo | |
| nl | Macrocefalie - intellectuele achterstand - autisme-syndroom | |
| pt | Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-autismo | |
| pl | Zespół wielkogłowie-autyzm | |
| cs | Syndrom zahrnující makrocefalii, mentální retardaci a autismus | |
| uk | Синдром макроцефалії-інтелектуальної недостатності-аутизму | |
| zh | 大头畸形-智力障碍-自闭症综合征 | |
| tr | Makrosefali-zihinsel yetersizlik-otizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605309 | E | validated | |
| OMIM | 613926 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| UMLS | C5190809 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HEPACAM | Disease-causing germline mutation(s) in | Assessed | HGNC:26361 | ENSG00000165478 | 611642 | 11q24.2 | hepatic and glial cell adhesion molecule | 21419380[PMID] |
| PTEN | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 15805158[PMID]_17286265[PMID]_19265751[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
24 annotations · validated 2023-01-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0000256 | Macrocephaly | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| Occasional (29-5%) | ||
| HP:0000957 | Cafe-au-lait spot | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001252 | Hypotonia | |
| HP:0200008 | Intestinal polyposis | |
| HP:0001012 | Multiple lipomas | |
| HP:0001054 | Numerous nevi | |
| HP:0031447 | Penile freckling | |
| Very rare (<4-1%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001829 | Foot polydactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0001397 | Hepatic steatosis | |
| HP:0006781 | Hurthle cell thyroid adenoma | |
| HP:0000316 | Hypertelorism | |
| HP:0032203 | Lymphoid nodular hyperplasia | |
| HP:0011800 | Midface retrusion | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0002890 | Thyroid carcinoma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17286265[PMID]_17427195[PMID]_21960672[PMID]_34268892[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210548
- This record as JSON: /data/d/210548.json