Present No Retrognathia Present No No Prominent forehead Present Present No Deep set eyes Present Present Mild Thin lips Present Present Present Depressed nasal bridge Present Present Present Beaked nasal tip Yes Yes Yes Low set ears(fig 1) Present Present [alliedacademies.org]

Here, we present a 20-year-old male child from India presenting with childhood-onset, recurrent generalized seizures, which were poorly controlled with multiple antiepileptics. [ijcpjournal.org]

The objective of the present study is to clarify the clinical and neurological features of this rare genetic disorder. [ncbi.nlm.nih.gov]

• Recurrent Bacterial Infection

  A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). [scienceopen.com]

• High-Pitched Cry

  Affected babies may also develop opisthotonous posture, irritability, high pitched cry or jitteriness. [ncbi.nlm.nih.gov]

• Atrial Septal Defect

  Other features that had recently been reported include pyloric stenosis, atrial septal defect, craniosynostosis, congenital volvulous, retinal vessles tortousity and cataracts [ 6 ], and multiple pathological fractures. [ncbi.nlm.nih.gov]

  Other features that had recently been reported include pyloric stenosis, atrial septal defect, craniosynostosis, congenital volvulous, retinal vessles tortousity and cataracts [6], and multiple pathological fractures. [docksci.com]

• Cerebral Palsy

  He had mental retardation and infantile onset generalized tonic clonic seizures (GTCS) and had been labeled as a patient having cerebral palsy. [ijcpjournal.org]

• Proportionate Short Stature

  Nihon Rinsho 2015 Nov;73(11):1959-64 Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, [pubfacts.com]

• Failure to Thrive

  SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive. [ncbi.nlm.nih.gov]

  Conclusions: SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive. [degruyter.com]

  Signs and symptoms SSS is a relatively severe disorder that causes seizures, growth failure, failure to thrive, and intellectual disabilities. [forgottendiseases.org]

  […] to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hyperphosphtemia - Hypocalcemia - Hypoparathyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability [csbg.cnb.csic.es]

  A 7-month-old girl was admitted to the children hospital in Damascus for the first time complaining of failure to thrive. [avicennajmed.com]

• Poor Oral Hygiene

  The caries might be attributed to enamel hypoplasia, the use of sweetened medications over a long period, poor oral hygiene, and infrequent dental visits for preventive measures [ 5 ]. [ncbi.nlm.nih.gov]

• Small Hand

  The syndrome has a wide variety of clinical features, including deep-set eyes, micrognathia, thin lips, small maxilla, severely decayed teeth, beaked noses, depressed nasal bridges, external ear anomalies, small hands and feet, short stature, and learning [alliedacademies.org]

  All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. [unboundmedicine.com]

• Small Foot

  foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Astigmatism - Corneal clouding [csbg.cnb.csic.es]

  (very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin lips (very frequent sign) teeth anomalies (frequent sign) thick ear lobe (frequent [whonamedit.com]

• Carpopedal Spasm

  Full clinical picture of tetany, including carpopedal spasm, laryngospasm, muscle cramps, paraesthesia, Chvostek sign, Trousea’s sign, bulging anterior fontanele, bradycardia, heart failure and generalized oedema, are some of the less common signs [ 5 [ncbi.nlm.nih.gov]

  Full clinical picture of tetany, including carpopedal spasm, laryngospasm, muscle cramps, paraesthesia, Chvostek sign,Trousea’s sign, bulging anterior fontanele, bradycardia, heart failure and generalized oedema, are some of the less common signs [5]. [docksci.com]

• Beaked Nose

  The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet. [ncbi.nlm.nih.gov]

  nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. [orpha.net]

• Thin Lips

  The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet. [ncbi.nlm.nih.gov]

  lips Present Present Present Depressed nasal bridge Present Present Present Beaked nasal tip Yes Yes Yes Low set ears(fig 1) Present Present Normal ears Big rotated ears Yes No No Microtia No No Minimal Lips Thin lips with long philtrum Thin lips Thin [alliedacademies.org]

  lips and micrognathia), and mild to moderate intellectual deficiency. [orpha.net]

• Onset in Adolescence

  Extensive intracranial calcification is a well-recognized complication of hypoparathyroidism. [9] In addition, our patient had multifocal persistent dystonia, with onset in adolescence. The dystonia gradually resolved with calcium supplementation. [ijcpjournal.org]

METHODS: Each patient underwent a complete ophthalmologic evaluation including visual acuity assessment, orthoptic workup, slit-lamp biomicroscopy, intraocular pressure measurement, cycloplegic retinoscopy, funduscopy, corneal diameter, and axial length [ncbi.nlm.nih.gov]

Methods: Each patient underwent a complete ophthalmologic evaluation including visual acuity assessment, orthoptic workup, slit-lamp biomicroscopy, intraocular pressure measurement, cycloplegic retinoscopy, funduscopy, corneal diameter, and axial length [tandfonline.com]

Hence, it is the responsibility of all clinicians that whenever encountering patients suffering from SSS, they should conduct a detailed endocrine workup even if symptoms related to derangements of those organs are absent. [cureus.com]

HP should be considered in the differential diagnosis of spondyloarthropathies and myopathies, and calcium may be included in the diagnostic workup of these patients. REFERENCES 1. Korkmaz C, Yasan S. [scielo.br]

• Delayed Bone Age

  bone age - Depressed nasal bridge - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hyperphosphtemia - Hypocalcemia - Hypoparathyroidy - Intellectual [csbg.cnb.csic.es]

  Other medical problems that occur in SSS are as follows: Common problems in Sanjad-Sakati syndrome Microcephaly (small head) Delayed bone age Small hands and/or feet Short or very short stature Low birthweight Failure to thrive Low blood calcium High [forgottendiseases.org]

  bone age Delayed bone age Osteosclerosis Patchy osteosclerosis Poorly ossified skull bones Thickened cortex and narrow marrow cavities of long bones Small hands and feet Calvarial osteosclerosis Medullary stenosis of tubular bones Small hands and feet [ncbi.nlm.nih.gov]

• Lymphopenia

  Although some of the features seen in SSS resemble DiGeorge Syndrome, Kenny-Caffey Syndrome and familial Hypoparathyroidism, lack of association with normal intelligence, cardiac lesion, lymphopenia or skeletal abnormalities makes it a distinct entity [ingentaconnect.com]

  Although some of the features resemble DiGeorge Syndrome, Kenny-Caffey Syndrome and familial Hypoparathyroidism, no association with cardiac lesion, lymphopenia or skeletal abnormalities makes it a distinct entity. [ncbi.nlm.nih.gov]

Early professional advice and treatment, and periodical follow-up can improve quality of life of these patients. [ncbi.nlm.nih.gov]

Sanjad — Sakati Syndrome: Dental findings and treatment. [link.springer.com]

A comprehensive treatment plan was formulated and discussed with the girl and her family. [karger.com]

However, calcium and vitamin D supplements may help the affected individuals manage the symptoms of the condition better The prognosis of Kenny-Caffey Syndrome Type 1 is determined by the severity of the disorder. [dovemed.com]

Prognosis - Sakati syndrome Not supplied. Treatment - Sakati syndrome Not supplied. Resources - Sakati syndrome [checkorphan.org]

PROGNOSIS  recurrent infections, is the cause of death in at least 27%.  rare cases have survived up to the age of 18 years. 18. [slideshare.net]

Localization of the KCS/SSS gene at 1q42-q43 rules out an etiologic role for mutation in the parathyroid hormone (PTH), PTH receptors-1 and 2, and the calcium-sensing receptor genes in these disorders. [nature.com]

The etiology of enamel hypoplasia: a unifying concept. J Pediatr 1981; 98(6):888–893. PubMed Article Google Scholar Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD.MIM. [link.springer.com]

An association with abnormal facies, mental retardation, bilateral lenticular cataracts, extensive intracranial calcifications, and manifestation of the disease from early childhood suggests a congenital or hereditary etiology. [ijcpjournal.org]

To our knowledge, there is only one published case of mild HRD-like syndrome with no identifiable genetic etiology. Read More Sanjad-Sakati Syndrome: Oral Health Care. Med Princ Pract 2018 13;27(3):293-296. Epub 2018 Mar 13. [pubfacts.com]

(Etiology) Kenny-Caffey Syndrome is a genetic disorder that is caused by mutation(s) in the TBCE or FAM111A gene. The syndrome is of two types: Type I KCS is caused by a mutation in the TBCE gene. [dovemed.com]

SSS Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.com]

Table 1 Epidemiological, clinical, and radiological data for the studied patients Variable n (%) Age Range [mean] 9 months–12 years [mean: 4.9 years] Sex Male 11 (45.8) Female 13 (54.2) Gestational age Preterm 3 (12.5) Full term 21 (87.5) Family and perinatal [ncbi.nlm.nih.gov]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.com]

Pathophysiology Virtually undetectable levels of parathyroid hormone resulting in hypocalcemia associated with hypophosphatemia. Growth hormone and insulin-like growth factor levels were also found to be low in affected children. [accessanesthesiology.mhmedical.com]

The exact pathophysiology behind these hormonal imbalances and their correlations is yet to be found [2,5]. Pathophysiology SSS is caused by a mutation in the tubulin co-factor E (TBCE) gene, the locus for which is located in chromosome 1q42.3. [cureus.com]

It was concluded that these patients have special dental needs; early diagnosis of the affected children is therefore important in order to commence preventive dental therapy and carry out appropriate dental treatment at the optimum time. [ncbi.nlm.nih.gov]

Many children born with KCS succumb by early infancy, due to the various complications and bone deformities that arise from the disorder Presently, Kenny-Caffey Syndrome Type 1 is a genetic disorder that cannot be prevented. [dovemed.com]

Conclusion: This diagnosis allowed for proper treatment of the patients, prevented associated co-morbidities, provided a genetic counseling to their families, and enriched the genetic data concerning this syndrome on the Egyptian population being reported [ingentaconnect.com]

Postoperative pain control should be optimized to prevent respiratory complications and sufficient enough to prevent hyperventilation — hypocalcemia — tetany cycle. [saudija.org]