Conradi-Hunermann syndrome is a term used to describe at least two different conditions. These conditions are part of the group which together are called chondrodysplasia punctata. 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.'

In Conradi-Hunermann syndrome this pattern is present and the bones of the arms and legs are short causing short stature (see entry, Restricted Growth). The bones of the face (see entry, Craniofacial Conditions) may also be involved. Some children with this condition have eye changes including cataracts. 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.

It can be difficult to differentiate the various forms of this condition.

There is an autosomal dominant and X-linked dominant form of Conradi-Hunermann syndrome. In addition there are autosomal recessive and X-linked recessive forms of chondrodysplasia punctata which can be sometimes be mistaken for Conradi-Hunermann syndrome. The genes which cause some of these conditions are known and can be tested for.

Prenatal diagnosis may be possible if the exact cause of the condition is known. In other cases ultrasound scanning may be helpful.

Disclaimer: The information on this website is to be used for informational and educational purposes only and is not to be used to replace personal consultation with a qualified health professional that is familiar with your individual medical needs. Always consult with a doctor, health-care provider, or therapist before making any medical decisions.