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| Disease found: | Dyggve Melchior Clausen syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare, progressive genetic disorder that results from mutations in the DYM (dymeclin) gene that is inherited in an autosomal recessive mode. [more info] |
| Signs and Symptoms: | Abnormal skeletal development, microcephaly, intellectual disability, barrel-shaped chest, bowed legs, knocked knees [more info] |
| Diagnosis: | Clinical evaluation and gene testing for mutations in DYM [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referrals and supportive therapy [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 |