Endocrinology · Endocrinology / Bone and mineral disorders
Camurati–Engelmann syndrome
also: Progressive diaphyseal dysplasia
Hyperostosis of long bones and skull.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Bone and mineral disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- TGFB1
- Alternative names & eponyms
- Progressive diaphyseal dysplasia
Etiology & mechanism
TGFB1 activating variants.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Camurati–Engelmann syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Gitelman syndrome
fatigue, muscle weakness
2 shared
Multiple endocrine neoplasia type 1
bone pain, fatigue
2 shared
Tumor-induced osteomalacia syndrome
bone pain, muscle weakness
1 shared
Atypical hemolytic uremic syndrome
fatigue
1 shared
Autoimmune polyglandular syndrome type 2
fatigue
1 shared
Barth syndrome
fatigue
1 shared
Bartter syndrome
muscle weakness
1 shared
Carcinoid heart disease
fatigue
1 shared
Cardiorenal syndrome
fatigue
1 shared
Castleman syndrome
fatigue
Shares genes with
None.
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