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| Disease found: | Achalasia-microcephaly syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia. [more info] |
| Signs and Symptoms: | Abnormal dermatoglyphics, achalasia, growth delay, failure to thrive, mandibular prognathia, intellectual disability, microcephaly, prominent nose [more info] |
| Diagnosis: | Barium Swallow Test [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referral and surgery if needed [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are recruiting, but can sign up to be notified when one becomes available |