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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]