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| Disease found: | 22q13.3 deletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Deletion of a small piece of chromosome 22 near the end of the long arm of the chromosome at a location designated as q13.3 sometimes including the loss of the SHANK3 gene [more info] |
| Signs and Symptoms: | Various physical especially facial (hypotonia, long eyelashes, down slanting eyes, large ears, ears without normal folding, bulb-like tip of nose, pointed chin, large hands, chronic diarrhea, constipation, or gastroesophageal reflux, seizures) and mental disabilities (intellectual disability, developmental delays especially delayed or absent speech, autism-like behavior) [more info] |
| Diagnosis: | FISH testing and Array-based CGH [more info] |
| Treatment: | Supportive Treament Only [more info] |
| Clinical Management: | Appropriate referral to specialists and therapy mental deficits [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: | Few clinical trials are currently recruiting |