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| Disease found: | 10q22.3q23 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Chromosomoal disorder. Partial autosomal monosomy caused by microdeletion leading to skeletal and developmental disorders [more info] |
| Signs and Symptoms: | Characteristic physical exam findings and neurological defects. Physical exam findings: mild facial dysmorphism, macrocephaly, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate. Neurological Defects: Cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism [more info] |
| Diagnosis: | Genetic testing (FISH) [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | PT for motor difficulties, surgery for correction of internal/external abnormalities, education support services for intellectual support |
| Referral: | N/A, NORD recommends Cleveland Clinic Center for Rare Diseases. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |