Dyggve-Melchior-Clausen syndrome
A rare, autosomal recessive, progressive genetic condition characterized by short stature, abnormal skeletal development, MICROCEPHALY; and INTELLECTUAL DISABILITY. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Mutations in the DYM gene have been identified. OMIM: 223800
Also Known As:
Dyggve-Melchior-Clausen Disease; Dyggve-Melchior-Clausen Syndrome, X-Linked; Dyggve-Melchior-Clausen syndrome X linked; X-linked Dyggve-Melchior-Clausen syndrome
Networked: 11
relevant articles (0 outcomes,
1 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Csaba, Zsolt:
2 articles
(05/2015 - 02/2009)
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2. | El Ghouzzi, Vincent:
2 articles
(05/2015 - 02/2009)
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3. | Gressens, Pierre:
2 articles
(05/2015 - 02/2009)
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4. | Perez, Franck:
2 articles
(05/2015 - 02/2009)
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5. | Khokhar, Aditi:
1 article
(01/2022)
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6. | Pletcher, Beth A:
1 article
(01/2022)
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7. | Ruane, Claire:
1 article
(01/2022)
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8. | Umans, Rachel:
1 article
(01/2022)
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9. | Upadhyay, Ravi:
1 article
(01/2022)
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10. | Wong, Kristin:
1 article
(01/2022)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Dyggve-Melchior-Clausen syndrome: