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type 2 Kenny-Caffey syndrome

hereditary disorder caused by mutations in the FAM111A gene and characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. OMIM: 127000
Also Known As:
Kenny-Caffey syndrome, type 2; Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia
Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Hypoparathyroidism
2. Hypocalcemia
3. Gracile bone dysplasia

Experts

1. Dimke, Henrik: 1 article (11/2021)
2. Lee, Christy Hui Lin: 1 article (11/2021)
3. Tan, Rebecca Siu Ga: 1 article (11/2021)
4. Todd Alexander, R: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 2 Kenny-Caffey syndrome:
1. Serine Proteases (Serine Protease)IBA
2. ElectrolytesIBA