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| Disease found: | 17q23.1q23.2 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Condition caused by a small deletion of genetic material from chromosome 17 encompassing bands 23.1 to 23.2 on the long arm of the chromosome. [more info] |
| Signs and Symptoms: | Mental developmental delays and structural abnormalities: Long fingers, Long toe, Frontal bossing, Intrauterine growth retardation, Microcephaly, Patent ductus arteriosus, Pulmonary arterial hypertension, short stature [more info] |
| Diagnosis: | The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Those with developmental delays, cognitive disability, and/or behavioral issues should be evaluated by a psychologist/psychiatrist. [more info] |
| Referral: | TBX4 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 |