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| Disease found: | 15q24 microdeletion syndrome |
| Current as of: | Thu Nov 21 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. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Clinical trials currently recruiting |