Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypoparathyroidism-retardation-dysmorphism syndrome

Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation, and seizures.

Systematic

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

References:

1.

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

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2.

Kelly TE et al. (2000) Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.

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3.

Kalam MA et al. (1992) Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.

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4.

Courtens W et al. (2006) Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

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5.

Richardson RJ et al. (1990) Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

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6.

Sanjad SA et al. (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

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7.

Hershkovitz E et al. (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

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8.

Marsden D et al. (1994) Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.

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9.

Parvari R et al. (1998) Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

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Update: Sept. 26, 2018