A genetic disorder characterized by variable skin keratinization, asymmetric shortening of limbs, and scoliosis
Chondrodysplasia punctata is a group of rare diseases that was first described by a German physician, Erich Conradi. The common feature of these diseases is the abnormality appearing on x-rays as epiphyseal stippling (i.e. spots or specks near the ends of bones and cartilages). There is an abnormal accumulation of calcium salts within the bone or cartilages. One of the types of chondrodysplasia punctata is the Conradi–Hünermann syndrome.
Conradi–Hünermann syndrome is an X-linked dominant trait. It is often associated with the defective gene, EBP.1 The gene is located on the short arm of the X chromosome. It encodes for emopamil binding protein. Mutations in EBP gene (e.g deletions and substitutions) lead to an insufficient production of emopamil binding protein.
Some of the symptoms of Conradi–Hünermann syndrome are skin keratinization disorders, ichthyosis at infancy, scoliosis, asymmetric limb shortness, growth deficiency, flattened midfacial regions, crescent-shaped nostrils, low nasal bridge, sparse and coarse hair, alopecia, and cataracts.
- Conradi–Hünermann–Happle syndrome
- chondrodysplasia punctata, X-linked dominant
- Happle syndrome
1 Guggenberger, C., Ilgen, D., & Adamski, J. (May 2007). “Functional analysis of cholesterol biosynthesis by RNA interference” . J. Steroid Biochem. Mol. Biol. 104 (3-5): 105–9