The first report, an abstract, was by sanjad et al. Sanjadsakati syndrome and its association with superior. Neurological manifestations in children with sanjadsakati. If you have problems viewing pdf files, download the latest version of adobe reader. Sanjadsakati syndrome sss is a rare autosomal recessive disorder seen in children of middle eastern descent, predominantly of consanguineous parents. Case report sanjadsakati syndrome and its association. Sanjadsakatisyndrome sss isarareautosomalrecessive disorder omim 241410 that is confined to arab middle eastern populations. Sanjadsakati syndrome sss omim 241410 is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with seizures and a characteristic physiognomy.
Available formats pdf please select a format to send. Partial agenesis of corpus callosum in sanjadsakati. Sanjadsakati syndrome sss, also called hypoparathyroid. It was first reported from the kingdom of saudi arabia in 1988. Sanjadsakati syndrome sss is an autosomal recessive disorder found exclusively in people of arabian origin. Hamamy 3 abstract sanjad sakati syndrome is a rare autosomal recessive disorder that has been described in arabs. Sanjadsakati syndrome sss is an autosomal recessive disorder found.
Sanjadsakati syndrome sss is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. Woodhouse sakati syndrome is a disorder that primarily affects the bodys network of hormoneproducing glands the endocrine system and the nervous system. Sanjadsakati syndrome sss is a newly described syndrome originating mainly from the middle east and arabian gulf countries. Sanjad sakati syndrome sss is a newly described syndrome mainly from the middle east and the arabian gulf countries. Etiology kennycaffey syndrome is a genetic disorder that is caused by mutations in the tbce or fam111a gene. Sanjadsakati syndrome is also called hypoparathyroidismretardationdysmorphism syndrome hrd. Sanjad sakati syndrome also known as hypoparathyroidismretardationdysmorphism syndrome or hrd is a rare autosomal recessive genetic defect.
Pdf sanjad sakati syndrome is an autosomal recessive disorder found exclusively in people of arabian origin. Case report sanjadsakati syndrome and its association with superior mesenteric artery syndrome osamahabdullahalayed king faisal specialist hospital research centre, p. Richardson and kirk 1990 described the cases of 4 boys and 4 girls with this syndrome who were the products of 7 consanguineous marriages, 2 of the patients being brothers. Impact of intercurrent illness on calcium homeostasis in. Pregnancy after preimplantation genetic diagnosis for. This is a report of a family with this rare disease in oman. This is a report of a palestinian premature 35 weeks gestation newborn who was part of. The objective of the present study is to clarify the clinical and neurological features of this rare genetic disorder. Sanjadsakati syndrome in a tunisian child sciencedirect. Sss is very similar to kennycaffey syndrome, type 1. Supportive treatment in the form of vitamin d and growth hormone. Sa sanjad definition of sa sanjad by medical dictionary.
It was first reported in the kingdom of saudi arabia in 1988 and confirmed by a definitive report in 1991. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. The syndrome comprises of congenital hypoparathyroidism, seizures, severe growth and developmental retardation, low iq, and atypical facial features. Woodhousesakati syndrome is a disorder that primarily affects the bodys network of hormoneproducing glands the endocrine system and the nervous system. Partial agenesis of corpus callosum in sanjadsakati syndrome pacc volume 39 issue 6 naif alghasab, a. All affected patients of arab origin are homozygous for a 12bp 155. Neurological manifestations of sanjadsakati syndrome. This is a report of a palestinian premature 35 weeks gestation newborn who was part of twins and had this rare disease. Typically, children with this syndrome are born lowbirthweight due to intrauterine growth retardation. Although sss shares the same locus with the autosomal recessive form of kennycaffey syndrome see this term, the latter differs from sss by its normal. Original article sanjadsakati syndrome in sudanese children wiam a. The sakatinyhan syndrome, also known as sakatinyhantisdale syndrome or acrocephalosyndactly type iii, is an extremely rare type of acrocephalopolysyndactyly. Pubmed is a searchable database of medical literature and lists journal articles that discuss hypoparathyroidismintellectual disabilitydysmorphism syndrome. Three infants managed with standard treatment for hypoparathyroidism two with homozygous mutations in gcmb2 gene and one with sanjadsakati syndrome developed symptomat.
The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6yearold child with hypoparathyroidism and short stature diagnosed with kennycaffey syndrome kcs type 2 and the subsequent response to growth. It is characterized by congenitalhypoparathyroidism,hypocalcemia,seizures,hyperphosphatemia, growth retardation, dwarfism, mental retardation,anddysmorphiccraniofacialfeaturesincludingmicro. Neurological manifestations in children with sanjadsakati syndrome. Sanjad sakati syndrome regional office for the eastern.
Discussion sanjad sakati syndrome hrd syndrome is a rare autosomal recessive congenital disorder with equal distribution in both sexes and the gene of the syndrome is on chromosome 1q42q43 and has severe and often fatal consequences. This disorder has been mapped to the long arm of chromosome 1 1q42q43 and is caused by. Sackey sakati aur syndrome genetic and rare diseases. Anesthetic management of a case of sanjadsakati syndrome. Short stature and hypoparathyroidism in a child with kenny. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family. Kennycaffey syndrome type 1 kcs1 is a rare congenital disorder caused by mutations in the tbce gene.
Pdf sanjadsakati syndrome in omani children researchgate. Sanjadsakati syndrome an autosomal recessive disorder characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features. Molecular pathology caused by defects of tbce, which encodes cofactor e, a protein involved in ensuring that. Kennycaffey syndrome without the catch 22 deletion. Woodhousesakati syndrome genetics home reference nih.
He described a disorder called sanjadsakati syndrome that was named after his and nadia awni sakati. Dental treatment of sss patients might be complicated by endocrinopathy, seizure disorder, and learning impairment 5. 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. Sanjad sakati syndrome is an autosomal recessive disease. Dr sanjad and colleagues comment europe pmc article. Pubmed is a searchable database of medical literature and lists journal articles that discuss sackey sakati aur syndrome. A child with sss was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and. There are disorders that are specifically prevalent among the arabs, either uniformly or in certain locations, such as bardetbiedl syndrome, meckelgruber syndrome, spinal muscular atrophy, osteopetrosis and renal tubular acidosis, sanjadsakati syndrome, and congenital chloride diarrhea 78, 79. Hypoparathyroidismintellectual disabilitydysmorphism. Sanjadsakati syndrome sss is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation. Forgotten diseases research foundation sanjadsakati. The syndrome is sometimes known as the sanjadsakati syndrome.
Click on the link to view a sample search on this topic. This is the first genetically proven case series of sanjad sakati syndrome in jordan. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, dysmorphic features, as well as mild to severe mental retardation. The syndrome comprises of congenital hypoparathyroidism, severe growth retardation, low iq and typical facial features. Hypoparathyroidismretardationdysmorphism syndrome cags. Because the term sanjadsakati is used most often, we have chosen to use this name here. It was first reported in the kingdom of saudi arabia in 1988 and confirmed by a. Children with the sanjad sakati syndrome have a triad of. Abdullah the endocrine division, department of paediatrics and child health, faculty of medicine, university of khartoum and soba university hospital, khartoum, sudan abstract we report on the first 4 cases 3 girls and one boy. The topic sanjadsakati syndrome sss you are seeking is a synonym, or alternative name, or is closely related to the medical condition kennycaffey syndrome type 1. Casereport sanjadsakati syndrome dental management. Sanjad sakati syndrome sss is a rare autosomal recessive congenital disorder. Journal of pediatric ophthalmology and strabismus a 21yearold man with kennycaffey syndrome had been observed since 1993 for hyperopia.
Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. The otolaryngologic features of sanjadsakati syndrome. All of our cases were the outcome of consanguineous marriages which are common in sudan as in many other middle eastern countries. Sanjadsakati syndrome with corneal opacity in a palestinian neonate. Sanjadsakati syndrome is an autosomal recessive disorder found mainly in people of arabian origin. Parvari et al 7 reported the causative gene encoding tubulinspecific chaperone e tbce located at 1q4243. This diagnosis allowed for proper treatment of the patients, prevented associated comorbidities, provided a genetic counseling to their families, and enriched the. Atlas of metabolic diseases this page intentionally left blank atlas of metabolic diseases second. Sss molecular pathology has been shown to be due to mutations in the tbce gene on chromosome 1q42q43.
Full text full text is available as a scanned copy of the original print version. Sanjad sakati syndrome is an autosomal recessive disorder found exclusively in people of arabian origin. Sanjad has sent us this list of signs associated with the sanjadsakati syndrome. Original article sanjadsakati syndrome in sudanese children. Read pregnancy after preimplantation genetic diagnosis for sanjadsakati syndrome, prenatal diagnosis on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Type i kcs is caused by a mutation in the tbce gene. He is working in the hospital of the american university in beirut, lebanon. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. The anesthetic concerns encountered included a difficult airway anatomy due to facial dysmorphic features and short stature, along with increased sensitivity to muscle relaxants. As its name suggests, this condition is characterized by congenital hypoparathyroidism, intrauterine and postnatal growth retardation, mental retardation, and dysmorphic features, including microcephaly. Both are caused by mutations in the same gene and they share sufficient symptoms that we are also treating. Facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible.
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