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| Disease found: | 2p15p16.1 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. [more info] |
| Signs and Symptoms: | Various physical (Blepharophimosis, downslanted palpebral fissures, epicanthus, everted lower lip vermilion, microcephaly, narrow mouth, optic atrophy, pachygyria, hypoplastic corpus callosum) and mental disabilities (Attention deficit hyperactivity disorder, autism, growth delay) [more info] |
| Diagnosis: | Molecular techniques such as MLPA or microarrays (array-CGH) or targeted cytogenetic testing using FISH [more info] |
| Treatment: | Supportive Treatment 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: | None are available, but can sign up to be notified when one becomes available |