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.