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.



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Narrow down the case reports



Total: 22 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(41.7%)
29533933
Sanjad-Sakati Syndrome: Oral Health Care.
Hassona Y, Rajab L, Taimeh D, Scully C.
Med Princ Pract. 2018;27(3):293-296.
Microcephaly Hypodontia
Child Females Growth Disorders Homo sapiens Hypoparathyroidism Intellectual Disability Osteochondrodysplasias Seizures
1
(41.7%)
15005702
The dentofacial features of Sanjad-Sakati syndrome: a case report.
Al-Malik MI.
Int J Paediatr Dent. 2004;14(2):136-40.
Microcephaly Microdontia
Child, Preschool Craniofacial Abnormalities Dwarfism Facies Females Homo sapiens Hypoparathyroidism Intellectual Disability Micrognathism Saudi Arabia Syndrome Tooth Abnormalities
3
(40.2%)
17257873
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.
Khan AO, Al-Assiri A, Al-Mesfer S.
J AAPOS. 2007;11(3):288-90.
Macrocephaly Prominent forehead
TBCE
c|DEL|155_166|
Child, Preschool Corneal Opacity Craniofacial Abnormalities Females Fetal Growth Retardation Homo sapiens Hyperparathyroidism Infant Intellectual Disability Keratitis Male Microphthalmos Molecular Chaperones Saudi Arabia Syndrome
4
(39.0%)
30055029
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P.
Am J Med Genet A. 2018;176(8):1768-1772.
Microcephaly
KNL1 TBCE
Child, Preschool Face Females Growth Disorders Homo sapiens Hypoparathyroidism India Intellectual Disability Microcephaly Molecular Chaperones Mutation Osteochondrodysplasias Phenotype Seizures Whole Exome Sequencing
4
(39.0%)
26336027
(6074128)
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiania A.
Ann Saudi Med. 2015;35(2):170-2.
Microcephaly
TBCE
c|DEL|155_166| rs767004810 rs786205075
Females Growth Disorders Homo sapiens Hypoparathyroidism Infant, Newborn Intellectual Disability Molecular Chaperones Morocco Mutation Osteochondrodysplasias Seizures
6
(26.3%)
16470743
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.
Deeply set eye Prominent forehead
TBCE
Child, Preschool Chromosome Aberrations Face Females Fluorescent in Situ Hybridization Gene Duplication Genome, Human Homo sapiens Hypoparathyroidism Intellectual Disability Microtubule-Associated Proteins Molecular Chaperones Mutation Syndrome Western Blotting
7
(17.5%)
24339556
(3841568)
Hypoparathyroidism-retardation-dysmorphism syndrome.
Kumar KJ, Kumar HC, Manjunath VG, Mamatha S.
Indian J Hum Genet. 2013;19(3):363-5.
Hypoparathyroidism Tetany
7
(17.5%)
20152369
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome.
Pal K, Moammar H, Mitra DK.
J Pediatr Surg. 2010;45(2):430-4.
Myopathy
Child Chromosomes, Human, Pair 1 Comorbidity Developmental Disabilities Fatal Outcome Gastrointestinal Motility Gene Deletion Growth Disorders Homo sapiens Intellectual Disability Intestinal Pseudo-Obstruction Male Saudi Arabia Syndrome
9
(4.0%)
30638765
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D.
Arch Pediatr. 2019;26(2):102-107.
Congenital hypoparathyroidism
c|DEL|155_166|
Consensus Females Genetic Markers Growth Disorders Homo sapiens Hypoparathyroidism Infant Infant, Newborn Intellectual Disability Male Molecular Chaperones Osteochondrodysplasias Seizures Sequence Deletion Tunisia
9
(4.0%)
29494340
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.
Ajarmeh SA, Al Tamimi EM.
J Pediatr Endocrinol Metab. 2018;31(5):581-584.
Hypoparathyroidism
TBCE
c|DEL|155_166|
Anemia, Macrocytic Child, Preschool Failure to Thrive Growth Disorders Homo sapiens Hypoparathyroidism Intellectual Disability Male Osteochondrodysplasias Seizures
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000829 Hypoparathyroidism Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002901 Hypocalcemia Very frequent (99-80%)
HP:0002905 Hyperphosphatemia Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0008198 Congenital hypoparathyroidism Very frequent (99-80%)
HP:0008572 External ear malformation Very frequent (99-80%)
HP:0008846 Severe intrauterine growth retardation Very frequent (99-80%)
HP:0008897 Postnatal growth retardation Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000483 Astigmatism Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0003198 Myopathy Occasional (29-5%)
HP:0003416 Spinal canal stenosis Occasional (29-5%)
HP:0005214 Intestinal obstruction Occasional (29-5%)
HP:0005374 Cellular immunodeficiency Occasional (29-5%)
HP:0005686 Patchy osteosclerosis Occasional (29-5%)
HP:0007957 Corneal opacity Occasional (29-5%)
HP:0008056 Aplasia/Hypoplasia affecting the eye Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 14

HPO ID Term # of case reports
HP:0000829 Hypoparathyroidism 8
HP:0008198 Congenital hypoparathyroidism 5
HP:0001250 Seizures 4
HP:0000490 Deeply set eye 2
HP:0011220 Prominent forehead 2
HP:0001281 Tetany 1
HP:0001508 Failure to thrive 1
HP:0001511 Intrauterine growth retardation 1
HP:0002133 Status epilepticus 1
HP:0002901 Hypocalcemia 1
HP:0002905 Hyperphosphatemia 1
HP:0003510 Severe short stature 1
HP:0004322 Short stature 1
HP:0100806 Sepsis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TBCE tubulin folding cofactor E 6905