Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Synonyms: 7q36.3 microduplication syndrome · Dup(7)(q36.3)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome | 7q36.3 microduplication syndrome · Dup(7)(q36.3) |
| fr | Syndrome d'agénésie du corps calleux-macrocéphalie-hypertélorisme | Dup(7)(q36.3) · Syndrome de microduplication 7q36.3 |
| de | Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-Syndrom | Dup(7)(q36.3) · Mikroduplikationssyndrom 7q36.3 |
| es | Síndrome de agenesia del cuerpo calloso-macrocefalia-hipertelorismo | Dup(7)(q36.3) · Síndrome de microduplicación 7q36.3 |
| it | Sindrome agenesia del corpo calloso - macrocefalia - ipertelorismo | |
| nl | Agenesie van corpus callosum - macrocefalie - hypertelorisme-syndroom | 7q36.3-microduplicatiesyndroom · Dup(7)(q36.3) |
| pt | Síndrome de agenesia do corpo caloso-macrocefalia-hipertelorismo | |
| pl | Zespół agenezji ciała modzelowatego, wielkogłowia i hiperteloryzmu | Dup(7)(q36.3) · Zespół mikroduplikacji 7q36.3 |
| cs | Syndrom zahrnující agenezi corpus callosum, makrocefalii a hypertelorismus | Mikroduplikační syndrom 7q36.3 |
| uk | Синдром агенезії мозолистого тіла-макроцефалії-гіпертелоризму | Синдром мікродуплікації 7q36.3 · Dup(7)(q36.3) |
| zh | 胼胝体发育不良-巨颅畸形-器官间距过远综合征 | 7q36.3微重复综合征 |
| tr | Korpus kallozum agenezi-makrosefali-hipertelorizm sendromu | Dup(7)(q36.3) · 7q36.3 mikroduplikasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.0 | NTBT | attributed | validated |
| MONDO | 0018725 | E | validated | |
| UMLS | C5679998 | 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 | 4 cases | Worldwide | Case(s) | Validated | 25944787[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25944787[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
10 annotations · validated 2020-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000337 | Broad forehead | |
| HP:0000256 | Macrocephaly | |
| Frequent (79-30%) | ||
| HP:0007099 | Chiari type I malformation | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001357 | Plagiocephaly | |
| Occasional (29-5%) | ||
| HP:0000324 | Facial asymmetry | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0006889 | Intellectual disability, borderline | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25944787[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/459074
- This record as JSON: /data/d/459074.json