Highlight text to provide feedback
| Disease found: | 5q14.3 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5 [more info] |
| Signs and Symptoms: | Autistic behavior, broad forehead, delayed speech and language development, hypotonia, high forehead, seizure, hypoplasia of the corpus callosum, motor stereotypy [more info] |
| Diagnosis: | Array CGH has been widely used as a promising diagnostic method [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Specialist referrals and therapy [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 available, but can sign up to be notified when one becomes available |