Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Kenny-Caffey syndrome

Autosomal recessive form of Kenny-Caffey syndrome is caused by mutations of the TBCE gene. Clinical characteristics include hypoparathyroidism, hypocalcemia, and seizures. Radiological finding are cortical thickening and medullary stenosis.

Systematic

Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Kenny-Caffey syndrome
TBCE
PTH

References:

1.

Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

[^]
2.

Franceschini P et al. (1992) Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.

[^]
3.

Bergada I et al. (1988) Kenny syndrome: description of additional abnormalities and molecular studies.

[^]
4.

Sarría A et al. (1980) [Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)].

[^]
5.

Tahseen K et al. (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed.

[^]
6.

Sabry MA et al. (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

[^]
7.

Diaz GA et al. (1998) The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

[^]
Update: Sept. 26, 2018