achalasia microcephaly syndrome
Findings
No curated finding names achalasia microcephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, 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. An autosomal recessive inheritance has been proposed.
Definition from the Mondo Disease Ontology (MONDO:0008699), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- AchalasiaHPOHP:0002571
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Prominent nose
Where it sits
- A kind of
Other names
1 name
Resolves to: achalasia microcephaly syndrome
- Also called
- achalasia-microcephaly syndrome