Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP gene[3][4] and affects between one in 100,000 and one in 200,000 babies.
Conradi–Hünermann syndrome
Other names
"Conradi–Hünermann–Happle syndrome",[1]: 500 "Happle syndrome,"[2] and "X-linked dominant chondrodysplasia punctata"[2]
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.[citation needed]
The genetics of Conradi–Hünermann syndrome have 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.[citation needed]
Diagnosisedit
An important test to confirm a diagnosis of Conradi-Hünermann syndrome is evaluating the plasma for elevated levels of a substance known as sterols. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Sterol levels are measured by gas chromatography-mass spectrometry. [5]
Screeningedit
Genetic screening for Conradi-Hünermann syndrome via the EBP Gene is offered by multiple providers.[6][7]
Treatmentedit
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.[citation needed]
Historyedit
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.[citation needed]
^Thomas Bernard Fitzpatrick; Irwin M. Freedberg (2003). Fitzpatrick's Dermatology in General Medicine. ISBN978-0-07-138076-8.
^ abRapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L.; Joseph L. Jorizzo; Ronald P. Rapini (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN978-1-4160-2999-1.
^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 (inactive 31 January 2024). PMID 18573709.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)
^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. S2CID 25890696.
^National Organization for Rare Disorders. "Conradi Hünermann Syndrome - NORD (National Organization for Rare Disorders)". National Organization for Rare Disorders. Retrieved 2018-03-01.
^National Center for Biotechnology Information (2016-08-17). "Clinical test for Chondrodysplasia punctata 2 X-linked dominant Offered by Laboratory Genetic Metabolic Diseases". National Center for Biotechnology Information. Retrieved 2018-03-01.
^National Center for Biotechnology Information (2017-12-04). "Clinical test for Chondrodysplasia punctata 2 X-linked dominant offered by PreventionGenetics". National Center for Biotechnology Information. Retrieved 2018-03-01.
conradi, hünermann, syndrome, rare, type, chondrodysplasia, punctata, associated, with, gene, affects, between, babies, other, names, conradi, hünermann, happle, syndrome, happle, syndrome, linked, dominant, chondrodysplasia, punctata, specialtymedical, geneti. Conradi Hunermann syndrome is a rare type of chondrodysplasia punctata It is associated with the EBP gene 3 4 and affects between one in 100 000 and one in 200 000 babies Conradi Hunermann syndromeOther names Conradi Hunermann Happle syndrome 1 500 Happle syndrome 2 and X linked dominant chondrodysplasia punctata 2 SpecialtyMedical genetics Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Screening 5 Treatment 6 History 7 See also 8 References 9 External linksSigns and symptoms editPossible signs and symptoms may include citation needed 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 IchthyosisGenetics editConradi Hunermann 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 Hunermann 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 Hunermann 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 citation needed The genetics of Conradi Hunermann syndrome have 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 citation needed Diagnosis editAn important test to confirm a diagnosis of Conradi Hunermann syndrome is evaluating the plasma for elevated levels of a substance known as sterols Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body Sterol levels are measured by gas chromatography mass spectrometry 5 Screening editGenetic screening for Conradi Hunermann syndrome via the EBP Gene is offered by multiple providers 6 7 Treatment editTreatment 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 citation needed History editIt 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 Hunermann Syndrome is named for Erich Conradi 1882 1968 and Carl Karl Hunermann 1904 1978 both are German Physicians citation needed See also editChondrodysplasia punctata Fetal warfarin syndrome List of cutaneous conditions List of radiographic findings associated with cutaneous conditionsReferences edit 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 978 1 4160 2999 1 Ausavarat S Tanpaiboon P Tongkobpetch S Suphapeetiporn K Shotelersuk V 2008 Two novel EBP mutations in Conradi Hunermann Happle syndrome Eur J Dermatol 18 4 391 3 doi 10 1684 ejd 2008 0433 inactive 31 January 2024 PMID 18573709 a href Template Cite journal html title Template Cite journal cite journal a CS1 maint DOI inactive as of January 2024 link Steijlen PM van Geel M Vreeburg M et al December 2007 Novel EBP gene mutations in Conradi Hunermann Happle syndrome Br J Dermatol 157 6 1225 9 doi 10 1111 j 1365 2133 2007 08254 x PMID 17949453 S2CID 25890696 National Organization for Rare Disorders Conradi Hunermann Syndrome NORD National Organization for Rare Disorders National Organization for Rare Disorders Retrieved 2018 03 01 National Center for Biotechnology Information 2016 08 17 Clinical test for Chondrodysplasia punctata 2 X linked dominant Offered by Laboratory Genetic Metabolic Diseases National Center for Biotechnology Information Retrieved 2018 03 01 National Center for Biotechnology Information 2017 12 04 Clinical test for Chondrodysplasia punctata 2 X linked dominant offered by PreventionGenetics National Center for Biotechnology Information Retrieved 2018 03 01 External links editGeneReviews NCBI NIH UW entry on Chondrodysplasia Punctata 2 X Linked Conradi Hunermann Syndrome Happle Syndrome Retrieved from https en wikipedia org w index php title Conradi Hunermann syndrome amp oldid 1201850546, wikipedia, wiki, book, books, library,
