Overview of Sakati Syndrome
Sanjad-Sakati syndrome (SSS) and Woodhouse-Sakati syndrome (WSS) are both rare genetic disorders with distinct clinical characteristics.
Disease Definition
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. It is characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism, seizures, and facial dysmorphism.
Types of Sakati Syndrome
Sanjad-Sakati Syndrome (SSS) and Woodhouse-Sakati Syndrome (WSS) are both rare genetic disorders with distinct clinical characteristics.
Sanjad-Sakati Syndrome (SSS)
Sanjad-Sakati Syndrome (SSS) is a rare multiple congenital anomaly syndrome, predominantly found in the Middle East and Arabian Gulf countries. It is characterized by various clinical features including intrauterine growth restriction, microcephaly, congenital hypoparathyroidism, seizures, and distinctive facial dysmorphism.
Woodhouse-Sakati Syndrome (WSS)
Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive genetic disorder that primarily affects the endocrine and nervous systems, leading to a combination of symptoms such as hypogonadism, diabetes mellitus, alopecia, and progressive extrapyramidal signs.
Woodhouse-Sakati Syndrome (WSS)
Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive genetic disorder primarily affecting the endocrine and nervous systems, leading to a combination of symptoms such as hypogonadism, diabetes mellitus, alopecia, and progressive extrapyramidal signs.
TBCE Gene Implication
The TBCE gene, located on chromosome 1q42-q43٫ is implicated in Sakati syndrome. This gene plays a crucial role in the development and function of cells٫ and alterations in TBCE can lead to the manifestation of this rare genetic disorder.
Clinical Features of Sakati Syndrome
Sanjad-Sakati syndrome presents with various physical characteristics, endocrine abnormalities, and neurological symptoms.
Physical Characteristics
Sakati syndrome is known for its distinct physical characteristics, including intrauterine growth restriction, microcephaly, facial dysmorphism, and anomalies in the hands and feet such as short fingers, broad thumbs, webbed toes, and polydactyly.
Endocrine Abnormalities
Patients with Sakati syndrome commonly exhibit various endocrine abnormalities such as hypoparathyroidism, growth hormone deficiencies, and metabolic disturbances, including diabetes mellitus. These endocrine dysfunctions contribute to the overall clinical picture of the syndrome.
Neurological Symptoms
Sakati syndrome is associated with various neurological symptoms, including seizures, developmental delays, and intellectual disabilities. These neurological manifestations contribute to the overall clinical presentation of the syndrome.
Diagnosis and Differential Diagnosis
Sakati syndrome is diagnosed based on clinical features, genetic testing, and imaging studies. Differential diagnoses include other genetic syndromes with similar physical and neurological characteristics.
Diagnostic Methods
The diagnosis of Sakati syndrome typically involves a combination of clinical evaluation, genetic testing to identify mutations in the TBCE gene, and imaging studies such as X-rays or MRIs to assess skeletal abnormalities and brain structures. These diagnostic methods help confirm the presence of the syndrome and differentiate it from other genetic disorders with similar clinical features.
Differential Diagnoses
When considering the differential diagnoses for Sakati syndrome, healthcare providers may look into conditions such as acrocephalopolysyndactyly (ACPS), Kenny-Caffey syndrome, and familial hypoparathyroidism due to the overlapping clinical features observed in these genetic disorders.
Management of Sakati Syndrome
For individuals with Sakati syndrome, management involves a multidisciplinary approach focusing on addressing specific symptoms and providing supportive care to improve quality of life.
Treatment Approaches
The management of Sakati syndrome involves a multidisciplinary approach that focuses on addressing individual symptoms through supportive care and therapies tailored to the specific needs of the patient. Treatment may include interventions to manage endocrine abnormalities, neurological symptoms, and other associated health issues to optimize the quality of life for individuals living with this rare genetic disorder.
Supportive Care
Supportive care plays a crucial role in managing Sakati syndrome, focusing on improving the overall quality of life for individuals affected. This may include providing educational resources, social support, and access to specialized healthcare professionals to address the complex needs associated with the syndrome.
Research and Studies on Sakati Syndrome
Sanjad-Sakati syndrome has been the subject of various studies, primarily focusing on genetic determinants, clinical manifestations, and management strategies. Researchers aim to enhance understanding and improve outcomes for individuals affected by this rare genetic disorder.
Latest Findings
Recent studies on Sanjad-Sakati syndrome have focused on genetic determinants, clinical manifestations, and potential management strategies. Researchers seek to deepen their understanding to improve outcomes and quality of life for those affected by this rare genetic condition.
Support Resources for Sakati Syndrome
For individuals and families affected by Sakati syndrome, accessing support resources from organizations and expert centers can provide valuable guidance and assistance in managing the condition.
Organizations and Centers
For those affected by Sakati syndrome, seeking support resources from organizations like the HypoPARAthyroidism Association, Inc. and Genetic and Rare Diseases Information Center can provide valuable assistance and connections to expert centers for comprehensive care.