Achalasia microcephaly syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 929
Definition
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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5%-29% of people have these symptoms.
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| Paronychia |
| Esotropia |
| Micrognathia |
| Epicanthus |
| Macrotia |
1%-4% of people have these symptoms.
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| Hirsutism |
| Abnormality of the mediastinum |
An unknown % of people have these symptoms.
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