Hajdu-Cheney Syndrome
| Classification according to ICD-10 | |
|---|---|
| M89.5 | Osteolysis |
| ICD-10 online (WHO version 2019) | |
The Hajdu-Cheney syndrome , and autosomal dominant acro-osteolysis or familial idiopathic acro-osteolysis or hereditary idiopathic osteolysis type VI called, is a very rare genetic disease , the degeneration of the local bone tissue ( osteolysis leads).
Prevalence and etiology
Hajdu-Cheney syndrome is a very rare condition. Around 50 cases have been reported worldwide to date. The disease usually follows an autosomal - dominant inheritance . Which gene or genes are affected, as well as the molecular pathogenesis, is still unclear. It is assumed that sporadic cases also occur due to new mutations .
Pathogenesis
The Hajdu-Cheney syndrome manifests itself in the affected patients, among other things, by short stature , a progressive breakdown of the distal phalanges (finger bones) and crowded metacarpal bones ( ossa carpalia ). The bone sutures on the skull ( suture ) do not ossify . The frontal sinus ( frontal sinus ) is missing and of the sella turcica ( sella turcica ) is extended. As the disease progresses, compression of the basilar artery can occur, which can become life-threatening. The ears , with large lobes, are lower than normal. The nose is broad. The breakdown of the alveolar processes ( processus alveolaris ) leads to an early loss of teeth. The breakdown of the bones ( osteopenia ) can lead to bending of the spine ( scoliosis ) as the disease progresses . In addition to these main symptoms, other symptoms such as cyst kidney , congenital heart defects , hydrocephalus ('water head'), cleft palate and hepatosplenomegaly (enlargement of the liver and spleen ) have been observed in some people . The breakdown of bones makes patients physically weak and easy to break.
diagnosis
The first signs of the disease, which can rarely be diagnosed in childhood, are pain in the hands. A bone density measurement (osteodensitometry) can prove the extreme degradation of the bones.
therapy
Osteoporosis that manifests early can be treated with bisphosphonates .
Initial description
The American radiologist William D. Cheney (* 1918) first described Hajdu-Cheney syndrome in a family in northern Michigan in 1965 . One mother and four of her children showed symptoms of acroosteolysis , a large number of Worm's bones and hypoplasia of the bilateral ascending branch of the mandible ( ramus mandibulae ). Another namesake is the Hungarian-British radiologist Nicholas Hajdu (* 1908), who described cranioskeletal dysplasia in 1948.
Individual evidence
- ↑ a b c d Hajdu-Cheney syndrome. In: Orphanet (Rare Disease Database).
- ↑ P. Kaplan: Cystic kidney disease in Hajdu-Cheney syndrome. In: Am J Med Genet. 56, 1995, pp. 25-30. PMID 7747781 (Review)
- ↑ G. Currarino: Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. In: Pediatr Radiol. 39, 2009, pp. 47-52. PMID 18815778 (Review)
- ^ A b Barry G. Firkin, Judith A. Whitworth: Dictionary of medical eponyms. Informa Health Care, 2002, ISBN 1-85070-333-7 , p. 162. Limited preview in Google book search
- ^ WD Cheney: Acro-osteolysis. In: Am J Roentgen. 94, 1965, pp. 595-607. PMID 14303950
- ↑ N. Hajdu, R. Kauntze: Cranioskeletal dysplasia. In: Brit J Radiol. 21, 1948, pp. 42-48. PMID 18918373
- ^ Whonamedit.com: Nicholas Hajdu. Retrieved February 13, 2010.
literature
- Reference books
- Carl Joachim Wirth, Ludwig Zichner: Orthopedics and orthopedic surgery: systemic diseases. Georg Thieme Verlag, 2003, ISBN 3-13-126171-4 . limited preview in Google Book search
- Review article
- I. Marik et al: Hajdu-Cheney syndrome: report of a family and a short literature review. In: Australas Radiol. 50, 2006, pp. 534-538. PMID 17107523
- AM Brennan, RM Pauli: Hajdu-Cheney syndrome: evolution of phenotype and clinical problems. In: Am J Med Genet. 100, 2001, pp. 292-310. PMID 11343321
- A. Sahin, MS Pepeler, N. Shimbori: A patient with acro-osteolysis syndrome: Hajdu-Cheney. In: Internal medicine (Tokyo, Japan). Volume 49, Number 1, 2010, ISSN 1349-7235 , pp. 87-88. PMID 20046011 .
- Freely accessible articles in full text
- MA O'Reilly, DG Shaw: Hajdu-Cheney syndrome. In: Annals of the Rheumatic Diseases . Volume 53, Number 4, April 1994, ISSN 0003-4967 , pp. 276-279. PMID 8203959 , PMC 1005309 (free full text).
- LC Adès, LL Morris, EA Haan: Hydrocephalus in Hajdu-Cheney syndrome. In: Journal of medical genetics. Volume 30, Number 2, February 1993, ISSN 0022-2593 , p. 175. PMID 8445627 , PMC 1016286 (free full text).
- H. Hoey, F. Hinde, DB Grant: Hajdu-Cheney syndrome associated with intrauterine fractures and arachnoid cysts. In: Journal of the Royal Society of Medicine. Volume 76, Number 6, June 1983, ISSN 0141-0768 , pp. 521-523. PMID 6864724 , PMC 1439226 (free full text).
Web links
- Hajdu-Cheney Syndrome. In: Online Mendelian Inheritance in Man . (English)