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| Disease found: | Dubowitz Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare genetic condition characterized by small stature, slow growth, and small head [more info] |
| Signs and Symptoms: | Small stature, slow growth, microcephaly, intellectual disability, eczema, frequent infections, triangle- shaped face, a high or sloping forehead, undeveloped bones around the eyes, ptosis. [more info] |
| Diagnosis: | Geneticists can’t order a definitive genetic test; the main symptoms that geneticists look for are short stature, slow growth, small head, specific facial features, intellectual disabilities, and eczema [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referrals and genetic counseling [more info] |
| Referral: | No specific physicians specialize 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: | None are available, but can sign up to be notified when one becomes available |