Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes.[2] Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.[3]
^"Acromesomelic dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 11 October 2020. Retrieved 14 March 2019.
^Nyberg, David A, ed. (2003). Diagnostic imaging of fetal anomalies (2nd ed.). Philadelphia, Pa. [u.a.]: Lippincott Williams & Wilkins. p. 683. ISBN 9780781732116.
^"Acromesomelic Dysplasia - NORD (National Organization for Rare Disorders)". Retrieved 2015-09-19.
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Acromesomelicdysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower...
Cervenka J, Camargo M (March 1989). "A severe autosomal recessive acromesomelicdysplasia, the Hunter-Thompson type, and comparison with the Grebe type"...
necessary to have the condition. Du Pan Syndrome is a form of AcromesomelicDysplasia, which is a condition that affects bone growth. It is characterized...
and adult tissues. Mutations in this gene are associated with acromesomelicdysplasia, Hunter-Thompson type; brachydactyly, type C; and osteochondrodysplasia...
trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelicdysplasia-type Maroteaux". Human Molecular Genetics. 18 (2): 267–77. doi:10...
fetuses of 19 and 23 weeks gestation have also been reported. They showed acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis...
The specimen, known as Romito 2, exhibits features typical of acromesomelicdysplasia. Romito 2 was characterized by unusually short forearms and lower...
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