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| Disease found: | 12q14 microdeletion syndrome |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Autosomal dominant disorder caused by deletion of a piece of chromosome 12 causing learning and physical development deficits. [more info] |
| Signs and Symptoms: | Intellectual deficit, failure to thrive, short stature and osteopoikilosis, low birth weight [more info] |
| Diagnosis: | Diagnosed through chromosomal microarray or whole exome sequencing [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Surgery for internal physical defects and therapy for behavioral concerns [more info] |
| Referral: | No specific phsician is specializing in this condition, NORD recommends various Centers for Rare Diseases. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |