Achalasia-microcephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Achalasia-microcephaly syndrome | |
| fr | Syndrome d'achalasie-microcéphalie | |
| de | Achalasie - Mikrozephalie | |
| es | Síndrome de acalasia-microcefalia | |
| it | Sindrome acalasia - microcefalia | |
| nl | Achalasie - microcefalie-syndroom | |
| pt | Síndrome de acalasia-microcefalia | |
| pl | Achalazja- mikrocefalia | |
| cs | Syndrom zahrnující achalázii a mikrocefalii | |
| uk | Синдром ахалазії-мікроцефалії | |
| zh | 贲门失弛缓-小头综合征 | |
| tr | Akalazya-mikrosefali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200450 | E | validated | |
| ICD-10 | Q39.5 | NTBT | attributed | validated |
| MONDO | 0008699 | E | validated | |
| MeSH | C536010 | E | validated | |
| UMLS | C1860212 | E | validated | |
| GARD | 456 | 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:371445Genetic syndromic esophageal malformation
rare genetic diseases - ORPHA:108961Syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical 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 | 7 cases | Worldwide | Case(s) | Validated | 3048841[PMID]_2591072[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3048841[PMID]_2591072[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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0002571 | Achalasia | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0000448 | Prominent nose | |
| Occasional (29-5%) | ||
| HP:0000286 | Epicanthus | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/929
- This record as JSON: /data/d/929.json