Sanjad-Sakati syndrome

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

Congenital hypoparathyroidism

Deficiency of parathyroid hormone with congenital onset.


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PMID (PMCID)
25097779
 OTHER
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.
Haider AS, Ganesh A, Al-Kindi A, Al-Hinai A, Al-Kharousi N, Al-Yaroubi S, Al-Zuhaibi S.
Sultan Qaboos Univ Med J. 2014;14(3):e401-4.
Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.
25097779
 OTHER
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.
Haider AS, Ganesh A, Al-Kindi A, Al-Hinai A, Al-Kharousi N, Al-Yaroubi S, Al-Zuhaibi S.
Sultan Qaboos Univ Med J. 2014;14(3):e401-4.
Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.
17257873
 MIXED_SAMPLE Infant
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.
Khan AO, Al-Assiri A, Al-Mesfer S.
J AAPOS. 2007;11(3):288-90.
Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).
17040310
 MALE Child
Anesthesia management for the child with Sanjad-Sakati syndrome.
Platis CM, Wasersprung D, Kachko L, Tsunzer I, Katz J.
Paediatr Anaesth. 2006;16(11):1189-92.
Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.
16470743
 FEMALE
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nothen MM, Parvari R.
Am J Med Genet A. 2006;140(6):611-7.
Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.
15065107
 MIXED_SAMPLE
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome.
Hellani A, Aqueel A, Jaroudi K, Ozand P, Coskun S.
Prenat Diagn. 2004;24(4):302-6.
Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation.