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]

We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. [ncbi.nlm.nih.gov]

[…] disability-seizures syndrome Richardson-Kirk syndrome SSS Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q87.1 OMIM: 241410 UMLS: C1855840 MeSH: - GARD: 411 MedDRA: - The documents contained in this web site are presented [orpha.net]

• 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]

• 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]

  Read More Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. [pubfacts.com]

• Constipation

  Her problem list included hypoparathyroidism, hypocalcemia, nephrocalcinosis, hypothyroidism, growth retardation, seizure disorder, superior mesenteric artery syndrome, recurrent respiratory infections, and constipation. [saudija.org]

  She tolerated this well and it was deemed safe to prescribe her Movicol for the constipation. [hindawi.com]

  An interesting problem observed by one of the Authors (MAA) in older children is severe constipation with gut dilatation. [ncbi.nlm.nih.gov]

  An interesting, yet unexplained complication in older children that have been seen in few cases is severe constipation with gut dilatation. [cureus.com]

• Malocclusion

  Other features [ edit ] Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and malocclusion In another study of six patients, [1] the patients were investigated [wikivisually.com]

  Other features Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and malocclusion In another study of six patients, [1] the patients were investigated further [howlingpixel.com]

  Orodental manifestations of SSS include a high arched palate, microdontia, hypodontia, taurodontism, enamel hypoplasia, and malocclusion [ 4, 5, 6 ]; recognition of orodental manifestations might help distinguish SSS from other syndromes associated with [ncbi.nlm.nih.gov]

  Orodental manifestations of SSS include a high arched palate, microdontia, hypodontia, taurodontism, enamel hypoplasia, and malocclusion [ 4 - 6 ]; recognition of orodental manifestations might help distinguish SSS from other syndromes associated with [karger.com]

  Other features[edit] Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and malocclusion In another study of six patients, there were low levels of IGF-1 and [en.wikipedia.org]

• Microstomia

  General anesthesia and airway management in SSS might be complicated by dwarfism, a retrognathic mandible, microstomia, seizures, and endocrine abnormalities [ 10 ]. [ncbi.nlm.nih.gov]

• Blue Sclera

  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. [ncbi.nlm.nih.gov]

  sclera Low-set ears Large forehead Beaked or sharp nose Long philtrum (groove below the nose) Thin lips External ear abnormalities Depressed nasal bridge Diagnosis and Testing SSS is an autosomal recessive disorder caused by mutations in the gene TBCE [forgottendiseases.org]

• Small Hand

  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. [ncbi.nlm.nih.gov]

  hands and feet, smallgenitalia, hypoparathyroidism, and severe pre- and postnatal growthretardation C.H.: c.66-67del c.1113T A Jordan 8 Short stature, microcephaly, deep-set eyes, small hands and feet,mental retardation and learning difficulties, hypoparathyroidism [alliedacademies.org]

  The craniofacial features and growth retardation with small hands and feet impart such a characteristic appearance on these patients that makes the diagnosis easy once one had seen a case previously [3]. [docksci.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]

  nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply [dailyrounds.org]

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

  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 with a long philtrum. 9 Reply [dailyrounds.org]

• Learning Difficulties

  The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties. [ncbi.nlm.nih.gov]

  difficulties [ 6 ]. [alliedacademies.org]

  Phenotypic features All the patients had severe failure to thrive, microcephaly, delayed motor milestones, mental retardation and learning difficulties. All of them had teeth abnormalities such as delayed teething, dental caries or abnormal teeth. [emro.who.int]

• Tingling

  Patients experiencing hypoparathyroidism may feel tingling in their fingers, toes, or lips, and have muscle cramps and/or muscle spasms. They may also feel weak or nervous, have headaches, and/or memory loss. [forgottendiseases.org]

  Symptoms of hypoparathyroidism include weakness, muscle cramps; excessive nervousness; loss of memory; headaches, and abnormal sensations such as tingling, burning, and numbness of the hands. [rarediseases.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]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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  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]

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

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]

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]

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]

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]

(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]

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]

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]

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]