Conradi-Hunermann syndrome is a term used to describe one of a group of conditions which together are known as the ‘chondrodysplasia punctatas’. This name describes an unusual pattern which can be seen in the X-rays of babies and young children where the ends of the bones appear ‘stippled’ or ‘punctate.’
Medical text written March 2002 by Dr M Wright. Last updated October 2010 by Dr M Wright, Consultant Clinical Geneticist, Northern Genetics Service, Newcastle upon Tyne Hospitals, Newcastle upon Tyne, UK.
In Conradi-Hunermann syndrome the bones of the arms and legs are short causing short stature (see entry Restricted Growth). The shortening is usually asymmetrical. There is often a scoliosis of the spine. There may be contractures of the joints (where joints are fixed in a bent or straightened position). The bones of the face may also be involved with a depressed bridge of the nose. Some children with this condition have eye changes including cataracts (see entry). Babies may be born with a skin rash (see entry Ichthyosis) and can later develop thickening of the skin. The hair may be sparse or absent in patches.
This condition is usually only seen in girls as boys with the condition do not normally survive.
Conradi-Hunermann syndrome is caused by changes in a gene called EBP, which is important in the formation of cholesterol and Vitamin D
The diagnosis is usually made by assessment of X-rays and it is now possible to look for changes in the EBP gene in children where the diagnosis is suspected.
There is no treatment for the underlying cause of Conradi-Hunermann syndrome but the complications, including scoliosis, joint contracture and cataracts can be treated.
Conradi-Hunermann syndrome is inherited in an X-linked dominant manner. This means that the gene which causes the condition is on the X chromosome and girls are affected whilst boys with the condition do not normally survive. The condition can be inherited within families.
This may be possible if the exact cause of the condition is known. In other cases ultrasound scanning may be helpful.
There is no support group for Conradi-Hunermann syndrome in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Conradi-Hunermann syndrome.
Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect with other families in our closed Facebook group