What is Conradi-Hünermann syndrome?
Conradi-Hünermann syndrome is a rare genetic condition that is classified in a group of disorders called chondrodysplasia punctata, which are all characterized by the formation of small, hardened spots of calcium on the tops of the long bones or inside other cartilage in the body. Specifically, Conradi-Hünermann syndrome is associated with skeletal malformations, skin abnormalities, cataracts, and a short stature.
What causes Conradi-Hünermann syndrome?
Conradi-Hünermann syndrome is caused by mutations of the emopamil-binding protein (EBP) gene, which is inherited in a X-linked dominant pattern, but oftentimes, occurs randomly for no apparent reason. Because the disease is X-linked, it occurs almost exclusively in females.
What are the symptoms of Conradi-Hünermann syndrome?
The specific characteristic symptoms of Conradi-Hünermann syndrome (listed above) and their severity vary greatly from one individual to another, but the following physical abnormalities are most common in individuals affected:
- Disproportionate and asymmetrical shortening of the long bones
- Mild to moderate growth deficiency
- Prominent forehead
- Unusually flattened midfacial regions
- Low nasal bridge
- Sparse, coarse scalp hair
- Abnormal thickening, dryness, and scaling of the skin
How is Conradi-Hünermann syndrome diagnosed?
Conradi-Hünermann syndrome can be so mild that individuals may not be identified until adulthood, or so severe that serious birth complications occur during birth. Regardless of when in the patient’s life the condition is realized, a diagnosis is made based on an identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation using specialized testing methods. Usually, X-rays, eye, skin, and biochemical examinations are necessary, but the most important test to confirm a diagnosis involves evaluating the patient’s plasma for elevated levels of sterols, which come about from the EBP gene mutation.
What are the available treatments for Conradi-Hünermann syndrome?
Unfortunately, there is no cure for Conradi-Hünermann syndrome as of yet, so treatment is directed towards managing the symptoms of the condition and supporting its’ patients. Orthopedic measures, including surgery in severe cases, is recommended to help prevent or correct the skeletal abnormalities that are associated with the disorder (craniofacial malformations, scoliosis, etc.). In addition, treatment for cataracts is also recommended, either by surgically removing the cataracts or using corrective lenses, to help patients maintain good vision, and dermatologists can prescribe supportive measures to combat any skin ailments that occur.