achalasia microcephaly syndrome
MONDO:0008699
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.
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No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
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Achalasia microcephaly
Achalasia microcephaly syndrome is a rare condition whereby achalasia in the oesophagus manifests alongside microcephaly and intellectual disability. This is a rare constellation of symptoms with a predicted familial trend. The main signs of achalasia microcephaly syndrome involve the manifestation of each individual disease associated with the condition. Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. Abnormalities will be observed progressively after birth whereby the child will display stunted growth and physical and cognitive development. The occipital-frontal circumference will be at or near the extreme lower end, the third percentile, indicating microcephaly. There are both genetic and behavioural causes of microcephaly. Achalasia, or oesophageal achalasia, is a disorder occurring in the lower oesophageal sphincter (LES). The LES fails to relax completely, resulting in frequent vomiting and regurgitation, usually one to two hours after meals. If untreated, the long-term health of the individual will be compromised, leading to the development of dysphagia, weight loss and chronic aspiration. It is very rare in children, especially siblings. Mortality, specifically in young children, can occur. Due to the nature of the individual diseases, there is no cure for achalasia microcephaly. Treatment for achalasia involves drugs and surgical intervention, such as heller myotomy, with the goal of relieving LES pressure and its symptoms. Managem...
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.