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| Disease found: | 2q37 deletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Random disorder caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2 [more info] |
| Signs and Symptoms: | Developmental delay, autistic behavior, characteristic facial features (midface retrusion, round face, anteverted nares, depressed nasal bridge), and other physical abnormalities (short bones of the hand and of 3-5 fingers, scoliosis, hypotonia, umbilical/inguinal hernia, tracheomalacia, gastrointestinal abnormalities, and kidney malformations). [more info] |
| Diagnosis: | Chromosome analysis confirms the diagnosis of 2q37 deletion syndrome. [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Appropriate referral to specialists and speech therapy, behavior therapy, physical, occupational therapy, and special education programs [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: | One study currently recruiting |