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]

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]

Twenty-seven cases presented with hypocalcemia seizure and two were referred because of poor weight gain and were found to have asymptomatic hypocalcemia. [scienceopen.com]

Since SSS is an incurable disease, and treatment entirely focuses on the management of individually presented conditions. It is recommended that genetic counseling must be given to the affected parents. [ncbi.nlm.nih.gov]

• Multiple Congenital Anomalies

  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 [ebi.ac.uk]

  Homepage Rare diseases Search Search for a rare disease Sanjad-Sakati syndrome Disease definition Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly [orpha.net]

• Increased Susceptibility to Infections

  Increased susceptibility to infections with recurrent respiratory infections. Reported ocular anomalies (progressive corneal opacity, tortuous retinal vessels). Developmental delay is common. Seizures may occur. [accessanesthesiology.mhmedical.com]

  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. [pubcasefinder.dbcls.jp]

• 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]

• Malnutrition

  A combination of defects affecting GH, IGF-1 and thyroid hormone secretion coupled with malnutrition caused due to recurrent infections and growth plate defects, may all play the role in the development of short stature in these patients and perhaps, [cureus.com]

• Surgical Procedure

  The surgical procedure was uneventful, and the patient was transferred to pediatric ICU for overnight observation. She was transferred to the surgical ward next morning and was discharged home after 9 days. [saudija.org]

• Pneumonia

  Anesthesia Management Preoperative antibiotic prophylaxis was administered for pneumonia concerns. [hindawi.com]

  It has been suggested that some patients with SSS have an increased predisposition to recurrent pneumonia and other bacterial infection; prophylactic antibiotics might therefore be necessary before extensive dental surgery under general anesthesia [5, [karger.com]

  However, the boy recently presented with severe pneumonia requiring intensive care admission and ventilation. The child passed away during this admission at the age of 17 years due to respiratory compromise and multiorgan failure post pneumonia. [ncbi.nlm.nih.gov]

• 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]

  […] 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]

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

• High Arched Palate

  An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet. [karger.com]

• Small Hand

  Small hands with short and thin digits. Fig. 2. Oral findings included small dental arches, increased over bite, plaque-induced gingivitis, and multiple carious and missing teeth. Fig. 3. Small and pointed tongue. Fig. 4. [karger.com]

  (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]

  The most prominent dysmorphic features were microcephaly, facial and dental anomalies, and small hands and feet. Bone age was markedly retarded. Neither immunological nor chromosomal abnormalities were found. [ncbi.nlm.nih.gov]

  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]

• Fracture

  We describe the first report of morbid pathological fractures affecting a neonate with SSS. Access options Buy single article Instant access to the full article PDF. 39,95 € Price includes VAT (Finland) References Sanjad SA, Sakati NA, Abu-Osba YK. [link.springer.com]

  We describe the first report of morbid pathological fractures affecting a neonate with SSS. [ncbi.nlm.nih.gov]

  A 19-year-old Saudi female patient, weighing 9 kg, diagnosed with SSS, is admitted to our hospital for an open reduction and internal fixation of the right femur fracture. [saudija.org]

  We describe the first report of morbid pathological fractures affecting a neonate with SSS. 4 Citations Oral Facial Manifestations of Sanjad–Sakati Syndrome: A Literature Review S. [semanticscholar.org]

• Small Foot

  (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]

  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]

• Beaked Nose

  Facial features of SSS include low set ears, deep set eyes, thin lips, micrognathia, and a beaked nose [3]. [karger.com]

  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. [ebi.ac.uk]

  Sanjad has sent us this list of signs associated with the Sanjad-Sakati syndrome: autosomal recessive inheritance (very frequent sign) beaked nose (very frequent sign) deepset eyes/enophthalmos (very frequent sign) depressed nasal bridge (very frequent [whonamedit.com]

• Thin Lips

  Facial features of SSS include low set ears, deep set eyes, thin lips, micrognathia, and a beaked nose [3]. [karger.com]

  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]

  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. [ebi.ac.uk]

• Depressed Nasal Bridge

  Sanjad has sent us this list of signs associated with the Sanjad-Sakati syndrome: autosomal recessive inheritance (very frequent sign) beaked nose (very frequent sign) deepset eyes/enophthalmos (very frequent sign) depressed nasal bridge (very frequent [whonamedit.com]

  Oral Facial Manifestations of Sanjad–Sakati Syndrome: A Literature Review Medicine Children 2022 The reported orofacial manifestations of Sanjad–Sakati syndrome include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia, low-set ears, [semanticscholar.org]

  nasal bridge, bulbous nasal tip,antevertednares, long philtrum, thin lips and downturned corners ofmouth. [alliedacademies.org]

  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]

• Narrow Face

  face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. [ebi.ac.uk]

  He has typical morphological features, namely; long narrow face, deep set -set small eyes, beaked nose, large floppy ears and micrognathia, failure to succeed and mild to moderate mental retardation. [radiopaedia.org]

  Cases: They have typical dysmorphic facial features comprised of a narrow face, deep-set eyes, a beaked nose, large floppy ears, a thin upper lip and micrognathia. The three cases showed growth retardation of variable degrees. [ingentaconnect.com]

  face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply [dailyrounds.org]

• Delayed Milestone

  milestones Delayed milestones Delayed milestones Consanguinity First degree First degree No Micrognathia Present Present No Retrognathia Present No No Prominent forehead Present Present No Deep set eyes Present Present Mild Thin lips Present Present [alliedacademies.org]

• Papilledema

  Affected individuals may have unusually small eyes (microphthalmia), leakage of cerebrospinal fluid into the optic disk of the eye may cause swelling of the disk (papilledema), and/or farsightedness (hyperopia). [rarediseases.org]

• Average Intelligence

  He had average intelligence. [kundoc.com]

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]

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]

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]

• 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]

  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]

  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]

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

[…] general anesthesia and for the dental treatment of two cousins of the same child. [hindawi.com]

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]

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]

The second dental management stressed on steel crowns and dental extractions more than restorative procedures, that is, shifting toprocedures with more solid prognosis to minimize the child’s future dental needs. [hindawi.com]

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]

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]

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]

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]

It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism. [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]

This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female wit... hrp0094p2-227 | Fat, metabolism and obesity | ESPE2021 Global survey study of awareness, care and treatment of adolescents [abstracts.eurospe.org]

The exact pathophysiology behind these hormonal imbalances and their correlations is yet to be found [2,5]. [ncbi.nlm.nih.gov]

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]. [karger.com]

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]

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]

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]