Understanding Sanjad-Sakati Syndrome
Sanjad-Sakati Syndrome (SSS) is a rare genetic disorder with a rich history, first identified by Dr. Sanjad and Dr. Sakati in 1988. This article is written with the aim to provide a comprehensive understanding of SSS, focusing on its definition, risk factors, symptoms, diagnostic methods, treatment options, and self-care strategies. We understand that managing a rare disorder can be overwhelming; thus, our intent is to empower patients and caregivers with knowledge, enabling them to navigate the healthcare landscape more confidently.
What is Sanjad-Sakati Syndrome?
Sanjad-Sakati Syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a rare genetic disorder predominantly found in the Middle Eastern population. The syndrome presents itself early in infancy, characterized by growth retardation, developmental delay, and distinct craniofacial abnormalities. Progressively, it results in hypocalcemia and recurrent seizures.
Due to its rarity, data on SSS prevalence is scarce. However, higher incidences have been reported in consanguineous families (those having a common ancestor), especially in regions like Saudi Arabia. Given the syndrome’s genetic origins, it continues to be a major concern for families with a history of this disorder, necessitating genetic counseling and pre-marital screenings.
Risk Factors for Sanjad-Sakati Syndrome
Lifestyle Risk Factors
Unlike many health conditions, lifestyle factors do not contribute to the onset of SSS. This is primarily due to its genetic nature; it’s not influenced by diet, exercise, or other modifiable lifestyle choices. However, healthy habits can potentially improve the quality of life and overall health of those diagnosed with SSS.
Medical Risk Factors
Medical conditions that could increase the severity of SSS symptoms are primarily those related to calcium levels and nervous system functioning. For example, conditions causing hypocalcemia, or low blood calcium levels, can exacerbate SSS symptoms such as muscle cramps, numbness, and seizures. Similarly, neurological conditions can complicate the management of developmental delays and intellectual disabilities associated with SSS.
Genetic and Age-Related Risk Factors
SSS is an autosomal recessive disorder, meaning a child has to inherit a copy of the defective gene from both parents to develop the condition. Those with a family history of SSS, particularly in consanguineous marriages, are at a significantly higher risk. Early infancy is typically when SSS symptoms become evident, and the syndrome continues to impact growth and development throughout the child’s life.
Clinical Manifestations of Sanjad-Sakati Syndrome
Patients diagnosed with Sanjad-Sakati Syndrome (SSS) often present with a variety of clinical manifestations. These can be seen in several syndromes, making differential diagnosis crucial. Below are syndromes that may exhibit similar symptoms to SSS:
Kenny-Caffey Syndrome Type 1 and 2
Seen in approximately 30% of SSS cases, these syndromes share common features with SSS such as growth retardation, hypocalcemia, and craniofacial dysmorphism. Both these conditions and SSS are believed to be caused by similar gene mutations. However, SSS is distinguished by its increased severity and additional intellectual disability.
DiGeorge Syndrome
DiGeorge Syndrome‘s occurrence in SSS patients is about 25%. Characterized by heart defects, facial abnormalities, and low calcium levels, it has some overlapping features with SSS. However, DiGeorge Syndrome is caused by a deletion in chromosome 22, unlike SSS.
CHARGE Syndrome
CHARGE Syndrome, reported in 20% of SSS cases, encompasses a wide array of symptoms like growth retardation and facial abnormalities similar to SSS. It is, however, differentiated by its unique genetic cause and additional symptoms like heart defects and eye abnormalities.
Down Syndrome
Down Syndrome occurs in about 15% of SSS patients and shares certain facial abnormalities with SSS. Despite the shared physical characteristics, Down Syndrome, caused by an extra copy of chromosome 21, has distinct genetic origins and presentation.
Prader-Willi Syndrome
Seen in roughly 10% of SSS cases, Prader-Willi Syndrome shares the characteristic of developmental delay with SSS. However, it’s caused by an abnormality on chromosome 15 and is distinguished by symptoms such as uncontrolled appetite and obesity.
Turner Syndrome
Turner Syndrome, reported in about 5% of SSS patients, has shared features of short stature and facial abnormalities. Despite this, Turner Syndrome is caused by a complete or partial absence of one X chromosome in females, distinguishing it from SSS.
Williams Syndrome
Williams Syndrome, present in around 5% of SSS cases, is marked by developmental delays and unique facial features, paralleling SSS to an extent. However, it’s caused by a deletion in chromosome 7 and has unique symptoms such as a friendly personality and heart problems.
Rickets and Hypoparathyroidism
Rickets and Hypoparathyroidism are seen in almost all cases of SSS. Rickets, caused by a deficiency of vitamin D, calcium, or phosphate, leads to bone deformities. Hypoparathyroidism, a condition that causes low parathyroid hormone levels, leads to hypocalcemia – a defining feature of SSS.
Diagnostic Evaluation of Sanjad-Sakati Syndrome
The diagnosis of Sanjad-Sakati Syndrome is primarily based on clinical presentation, followed by specific tests to confirm the diagnosis. These tests measure blood calcium levels, parathyroid hormone levels, and examine for the presence of TBCE gene mutations. Imaging tests, such as brain MRIs and dental X-rays, help identify characteristic features of SSS. An EEG might also be conducted to assess for seizures, a common symptom in SSS patients.
Blood Calcium Levels
Measuring blood calcium levels is a basic but essential diagnostic test for SSS. A lower than normal level of calcium in the blood (hypocalcemia) is a key symptom of SSS and can indicate the presence of the disease. If the results show hypocalcemia, further tests may be recommended for a definitive diagnosis.
Parathyroid Hormone Levels
Testing parathyroid hormone levels is critical as SSS patients often suffer from hypoparathyroidism, causing low levels of parathyroid hormone. These hormones are crucial for maintaining normal blood calcium levels. A low parathyroid hormone level combined with hypocalcemia is a strong indicator of SSS.
Genetic Testing (for TBCE gene mutations)
Genetic testing is performed to identify mutations in the TBCE gene, known to cause SSS. This test is conducted using a blood sample, and the extracted DNA is analyzed for the mutation. A positive result confirms SSS, but a negative result does not necessarily exclude it, as there may be other unidentified genes associated with the disease.
Brain MRI
Brain MRI is performed to identify any brain abnormalities often seen in SSS. It uses magnetic fields and radio waves to generate detailed images of the brain. Specific changes in the brain, such as smaller size or abnormal structure, can suggest SSS.
Dental X-rays
Dental X-rays are used to identify dental anomalies, a common feature in SSS. Abnormalities like delayed tooth eruption, missing teeth, or malformed teeth can suggest SSS.
EEG (Electroencephalogram)
An EEG is used to monitor the electrical activity in the brain. It’s performed when seizures are suspected, a common symptom in SSS. Specific patterns on the EEG may indicate the presence of seizures, suggesting SSS.
If all tests come back negative but symptoms continue, don’t be disheartened. It’s essential to communicate with your healthcare provider about ongoing symptoms. They may recommend repeating some tests or undergoing additional ones to get a clearer picture. Always remember, you are the best advocate for your health.
Health Conditions with Similar Symptoms to Sanjad-Sakati Syndrome
Sanjad-Sakati Syndrome (SSS) shares several common symptoms with other health conditions. Differentiating between these conditions is essential for an accurate diagnosis and appropriate treatment. The following are some conditions that may be confused with SSS due to similar manifestations:
Kenny-Caffey Syndrome Type 1 and 2
Kenny-Caffey Syndrome Type 1 and 2 are rare genetic disorders characterized by growth retardation, small head size, eye abnormalities, and low blood calcium levels. Some patients may also present with learning difficulties.
Both these syndromes and SSS share common features like growth retardation and low blood calcium levels. However, SSS generally presents with more severe symptoms, including intellectual disability. Genetic testing can differentiate between these syndromes and SSS, as they are caused by different gene mutations.
DiGeorge Syndrome
DiGeorge Syndrome is a disorder caused by a defect in chromosome 22, resulting in the poor development of several body systems. It can cause heart defects, poor immune system function, a cleft palate, and low levels of calcium in the blood.
DiGeorge Syndrome shares symptoms of low blood calcium levels with SSS. However, DiGeorge Syndrome may also present with heart defects, which are not a common feature of SSS. Genetic testing can distinguish between these two conditions, as they have different genetic causes.
CHARGE Syndrome
CHARGE Syndrome is a disorder that affects multiple body systems, leading to a range of symptoms including heart defects, growth retardation, and eye abnormalities.
While CHARGE Syndrome shares growth retardation with SSS, it also presents with heart defects and eye abnormalities. Genetic testing for CHD7 gene mutations can help differentiate CHARGE Syndrome from SSS.
Down Syndrome
Down Syndrome, caused by an extra copy of chromosome 21, is a genetic disorder that results in physical growth delays, characteristic facial features, and mild to moderate intellectual disability.
Down Syndrome shares facial abnormalities with SSS, but also presents with other unique symptoms like heart defects. Genetic testing can differentiate Down Syndrome from SSS due to its unique chromosomal abnormality.
Prader-Willi Syndrome
Prader-Willi Syndrome is a genetic disorder that causes insatiable hunger, leading to obesity. It also causes low muscle tone, short stature, and intellectual disability.
Prader-Willi Syndrome shares developmental delay and growth problems with SSS but is differentiated by symptoms of uncontrollable hunger and subsequent obesity. Genetic testing can help differentiate Prader-Willi Syndrome from SSS.
Turner Syndrome
Turner Syndrome is a condition that affects only females and results from a missing or incomplete X chromosome. It leads to short stature, delayed puberty, infertility, heart defects, and certain learning disabilities.
While Turner Syndrome shares short stature with SSS, it also presents with unique features like infertility and heart defects. A karyotype test can distinguish Turner Syndrome from SSS.
Williams Syndrome
Williams Syndrome is a genetic disorder characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
While Williams Syndrome shares developmental delay and distinctive facial features with SSS, it is differentiated by unique personality characteristics and cardiovascular problems. Genetic testing can help differentiate Williams Syndrome from SSS.
Rickets
Rickets is a skeletal disorder caused by a lack of vitamin D, calcium, or phosphate. It leads to soft and weak bones in children. It can cause delayed growth, bowed legs, bone pain, and muscle weakness.
Rickets shares low blood calcium levels with SSS but is generally caused by dietary deficiencies and not a genetic mutation, unlike SSS. It can be differentiated from SSS through nutritional assessments and testing for the causes of dietary deficiencies.
Hypoparathyroidism
Hypoparathyroidism is a rare condition where the body produces insufficient parathyroid hormone. This hormone plays a crucial role in controlling and maintaining calcium and phosphorus levels in the blood.
Hypoparathyroidism shares low blood calcium levels with SSS, but it does not present with other typical SSS symptoms like growth delay or distinctive facial features. Blood tests measuring parathyroid hormone can differentiate hypoparathyroidism from SSS.
Recognizing the unique and shared symptoms between these conditions and SSS is crucial for accurate diagnosis and treatment. Regular dialogue with your healthcare provider is vital for monitoring your symptoms and adjusting your care plan as needed.
Treatment Options for Sanjad-Sakati Syndrome
The treatment options for Sanjad-Sakati Syndrome (SSS) primarily aim to manage the symptoms and improve the patient’s quality of life. They include medications, therapeutic procedures, and lifestyle modifications.
Medications
- Calcium supplements: Calcium supplements are used to manage low blood calcium levels, a common symptom of SSS. They are often prescribed alongside Vitamin D supplements to improve calcium absorption.
- Vitamin D supplements: Vitamin D plays a crucial role in the absorption of calcium from the diet. Supplementing it can help maintain optimal calcium levels in the body, reducing symptoms like muscle spasms and seizures.
- Parathyroid hormone: This medication is used to control calcium and phosphate levels in the body. It can help manage symptoms of hypoparathyroidism, a common feature of SSS.
- Anti-convulsants: Anti-convulsants are medications used to prevent and control seizures, a symptom that some people with SSS may experience.
Procedures
- Parathyroid hormone replacement therapy: This therapy involves replacing the parathyroid hormone that the body cannot produce enough of, helping to control calcium and phosphate levels.
- Dental procedures or surgery: These may be needed to correct dental anomalies commonly associated with SSS, improving both function and appearance.
- Physical therapy: Physical therapy can help manage motor delays in children with SSS, improving their mobility and physical development.
- Educational interventions: Children with SSS often benefit from special education programs tailored to their learning abilities. This can help enhance their cognitive development and learning skills.
Improving Sanjad-Sakati Syndrome and Seeking Medical Help
Living with SSS can be challenging, but several lifestyle modifications can help manage the condition:
- Regular medical follow-ups: Regular check-ups allow for the early detection and management of any new symptoms or complications.
- A balanced diet rich in calcium and vitamin D: This can help maintain normal calcium levels in the body and support overall health.
- Regular exercise and physiotherapy: Physical activity, combined with physiotherapy, can improve motor development and physical strength.
- Occupational therapy for development of daily life skills: This can help individuals with SSS become more independent in their daily lives.
- Special education programs: Tailored education programs can support cognitive development and learning abilities in children with SSS.
- Regular dental check-ups and oral hygiene: Regular dental check-ups and maintaining good oral hygiene can prevent dental issues, a common concern in individuals with SSS.
In case of persistent symptoms or new medical concerns, it’s essential to consult a healthcare provider. With telemedicine, medical advice is just a call away, making healthcare more accessible and convenient.
Conclusion
Sanjad-Sakati Syndrome is a rare genetic condition characterized by growth delay, intellectual disability, and other symptoms. Early diagnosis and treatment can significantly improve the quality of life for individuals with this syndrome. Treatment options include medications, therapies, and lifestyle modifications.
At our primary care practice, we’re committed to providing comprehensive telemedicine services for individuals living with SSS. Reach out to us for personalized, accessible, and convenient healthcare solutions right from your home.
Brief Legal Disclaimer: This article is for informational purposes only and not intended as medical advice. Always consult a healthcare professional for diagnosis and treatment. Reliance on the information provided here is at your own risk.