Infobox disease Name Pycnodysostosis Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 265800 MedlinePlus eMedicineSubj eMedicineTopic MeshID Pycnodysostosis from from Greek language Greek puknos meaning dense ref cite web url http www.winternet.com chuckg dictionary dictionary.151.html title Dictionary of Botanical Epiteths ref , dys defective , and ostosis condition of the bone , is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K . Genetics This is an autosomal recessive osteochondrodysplasia maps to chromosome 1q21. Cathepsin K, a cysteine protease in osteoclasts, deficiency is known to cause this condition. Interestingly, Cathepsin K became a much sought after drug target in osteoporosis after the etiology of pycnodysostosis was discovered. The disease consistently causes short stature. The height of adult males with the disease is less than 150 cm 59 inches, or 4 feet 11 inches . Adult females with the syndrome are even shorter. The disease has been named Toulouse Lautrec syndrome, after the French artist Henri de Toulouse Lautrec , who it has been surmised suffered from the disease. In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. Symptoms Pycnodysostosis causes the bones to be abnormally dense osteopetrosis the last bones of the fingers the distal phalanges to be unusually short and delays the normal closure of the connections sutures of the skull bones in infancy, so that the soft spot fontanel on top of the head remains widely open. Those with the syndrome have brittle bones which easily break, especially in the legs and feet. The jaw and collar bone clavicle are also ... are flat and grooved. Pycnodysostosis also causes problems that may become evident with time. Aside .... Frequency The precise frequency of pycnodysostosis has never been determined. Pycnodysostosis can ... more details
. Mutations in this gene are the cause of pycnodysostosis , an autosomal recessive disease characterized ... reading citations cite journal author Motyckova G, Fisher DE title Pycnodysostosis role and regulation ... RJ title Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. journal Nat. Genet. volume ... MH, Ortiz De Luna RI, Ide SE, et al. title The gene for pycnodysostosis maps to human chromosome ..., Shi GP, Chapman HA, Desnick RJ title Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency ... mutation in the cathepsin K gene observed in a family with pycnodysostosis. journal Genome Res. volume ... uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis ... more details
Infobox Disease Name Melorheostosis Image Caption DiseasesDB 29229 ICD10 ICD10 M 85 8 m 80 ICD9 ICD9 733.99 ICDO OMIM 155950 MedlinePlus eMedicineSubj eMedicineTopic MeshID D008557 Melorheostosis is a medical developmental disorder and mesenchyme mesenchymal dysplasia in which the bony Cortex anatomy cortex widens and becomes hyperdense in a sclerotome sclerotomal distribution. Diagnosis Melorheostosis is thought to be caused by a mutation of the LEMD3 gene . The disorder can be detected by radiograph due to thickening of bony cortex resembling dripping candle wax . It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. ref cite web url http www.orpha.net data patho GB uk Melorheostosis.pdf title Melorheostosis Orpha.net author Azouz ME Greenspan A ref The disorder tends to be unilateral and monoostotic, with only one limb typically involved. Cases with involvement of multiple limbs, ribs, and bones in the spine have also been reported. There are no reported cases of involvement of skull or facial bones. Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional limitation. It is also associated with a benign inner ear dysplasia known as osteosclerosis . ref name pmid18030463 cite journal author Subhas N, Sundaram M, Bauer TW, Seitz WH, Recht MP title Glenoid labrum ossification and mechanical restriction of joint motion extraosseous manifestations of melorheostosis journal Skeletal Radiol. volume 37 issue 2 pages 177 81 year 2008 pmid 18030463 doi 10.1007 s00256 007 0405 4 ref It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of Buschke Ollendorff syndrome . ref name pmid19438932 cite journal author Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP title Novel and recurrent germline LEMD3 mutations causing Buschke Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis journal Clin. Genet. ... more details
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