Conradi–Hünermann syndrome
| Conradi–Hünermann syndrome | |
|---|---|
| Specialty | Medical genetics  |
Conradi–Hünermann syndrome (also known as "Conradi–Hünermann–Happle syndrome",[1]: 500 "Happle syndrome,"[2] and "X-linked dominant chondrodysplasia punctata"[2]) is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene)[3][4] and affects between one in 100,000 and one in 200,000 babies.
Description
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, intellectual disability may also be present. While evidence suggests that Conradi–Hünermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported.
The genetics of Conradi–Hünermann syndrome has perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.
Symptoms
Possible symptoms include
- Growth deficiency
- Low nasal bridge
- Flat face
- Down-slanting space between eyelids
- Cataracts
- Asymmetric limb shortness
- Joint shortening or spasms
- Frequent scoliosis
- Frequent kyphosis
- Abnormal redness of the skin
- Thick scales on infant skin
- Large skin pores
- Flaky Skin
- Sparse hair
- Coarse hair
- Bald spots/ Alopecia
- Ichthyosis
Treatment
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.
Other name
It is also known as Happle's syndrome, after the German Physician, Rudolf Happle (b. 1938), who wrote a series of papers about the disease in 1976.
The name Conradi-Hünermann Syndrome is named for Erich Conradi (1882–1968), and Carl (Karl) Hünermann (1904–1978), both are German Physicians.
See also
- Chondrodysplasia punctata
- Fetal warfarin syndrome
- List of cutaneous conditions
- List of radiographic findings associated with cutaneous conditions
References
- ^ Thomas Bernard Fitzpatrick; Irwin M. Freedberg (2003). Fitzpatrick's Dermatology in General Medicine. ISBN 978-0-07-138076-8.
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L.; Joseph L. Jorizzo; Ronald P. Rapini (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V (2008). "Two novel EBP mutations in Conradi–Hünermann–Happle syndrome". Eur J Dermatol. 18 (4): 391–3. doi:10.1684/ejd.2008.0433. PMID 18573709.
- ^ Steijlen PM, van Geel M, Vreeburg M, et al. (December 2007). "Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome". Br. J. Dermatol. 157 (6): 1225–9. doi:10.1111/j.1365-2133.2007.08254.x. PMID 17949453.