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Disease Camurati-Engelmann Syndrome

Name Camurati-Engelmann Syndrome
Synonyms CAEND | Camurati Engelmann Disease | Camurati-Engelmann Disease | Camurati Engelmann Syndrome | CED | DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE | Diaphyseal Dysplasia, Progressive | Diaphyseal Dysplasias, Progressive | Diaphyseal Hyperostosis | DPD1 | Dysplasia, Progressive Diaphyseal | Dysplasias, Progressive Diaphyseal | Engelmann Disease | Engelmann's Disease | PDD | Progressive Diaphyseal Dysplasia
Definition An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Categories Genetic disease (inborn) | Musculoskeletal disease
MeSH® ID D003966
OMIM® ID 131300
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Osteochondrodysplasias Has associated chemicals Has associated genes Camurati-Engelmann Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Camurati-Engelmann Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Camurati-Engelmann Syndrome Has associated chemicals Has associated genes
  Camurati Engelmann disease, type 2
  Camurati-Engelmann Disease, Type II
  Diaphyseal dysplasia 1, progressive
  Ribbing disease