Endocrinology · Endocrinology / Bone and mineral disorders
Kenny–Caffey syndrome
also: Tubular stenosis with hypocalcemia
Short stature, tubular bone thickening and hypoparathyroidism.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Bone and mineral disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- FAM111A, TBCE
- Alternative names & eponyms
- Tubular stenosis with hypocalcemia
Etiology & mechanism
TBCE or FAM111A variants.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Kenny–Caffey 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.
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Shares symptoms with
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
macrocephaly
1 shared
Barakat syndrome
hypocalcemia
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
1 shared
Coffin–Lowry syndrome
short stature
Shares genes with
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