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| Disease found: | 20p12.3 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | 20q12.3 is a microdeletion syndrome is a chromosome abnormality where a segment of genetic material on chromosome 20 at position 12.3 is deleted. [more info] |
| Signs and Symptoms: | Abnormal facial features (Hypertelorism, Downslanted palpebral fissures, Epicanthus, Hypoplasia of the maxilla, Macrocephaly, Narrow mouth) and Wolff-Parkinson-White syndrome [more info] |
| Diagnosis: | Revealed by special techniques such as FISH or microarrays (array-CGH) [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Appropriate referral and management of acute symptoms [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 |