Conradi-Hunermann syndrome
What are the symptoms?
In Conradi-Hunermann syndrome 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.
Background
| Inheritance patterns and prenatal diagnosis ![]()