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| Disease found: | 15q24 microdeletion syndrome |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Random mutation disorder caused by missing piece of genetic information chromosome 15 causing mental and physical development deficits. [more info] |
| Signs and Symptoms: | Mental deficits (behavior abnormality, autism, intellectual deficit, speech delay) and physical deficits (developmental delay, abnormal outer ear, brachydactyly, broad eyebrows, epicanthus, hypotonia, joint laxity, postnatal growth retardation, short stature) [more info] |
| Diagnosis: | Oligonucleotide array CGH with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24. [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Multidisciplinary management is needed including therapy and various specialties [more info] |
| Referral: | No specific physician specializes in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | Clinical trials currently recruiting |