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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Pycnodysostosis
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Pycnodysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Pycnodysostosis
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Pycnodysostosis

Término preferido

Pycnodysostosis  

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Tipo

  • mesh:Descriptor

Definición

  • Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.

Concepto genérico

Etiquetas alternativas

  • Pyknodysostosis

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-KWWX5MTB-X

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RDF/XML TURTLE JSON-LD Creado 25/6/10, última modificación 3/7/12