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Diastrophic Dysplasia

Background

Diastrophic Dysplasia: Diastrophic Dwarfism

Diastrophic Dysplasia (DTD) is a rare, inherited skeletal dysplasia (a condition of abnormal bone growth or development) affecting both females and males equally. It was first described in 1960 by French doctors, Dr M. Lamy and Dr P. Maroteaux, as Le nanisme diastrophique. DTD is a disorder of restricted growth, spinal curvature and abnormalities of the fingers and toes. Intelligence is normal. The average height of adults is 118 cm (males: 86-127 cm; females 104-122 cm). Respiratory complications can cause an increase in infant mortality, but individuals who survive infancy have a normal life span.

The incidence is thought to be 1 in 110,000 births and it is caused by mutations in the SLC26A2 (DTDST) gene on chromosome 5q31-q34.

What are the symptoms? View What are the symptoms?

Medical text written January 2005 by Contact a Family. Approved January 2005 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK.

 

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