Sanjad-Sakati syndrome
Sanjad-Sakati Syndrome (pronounced: San-jad Sa-ka-ti Syn-drome) is a rare genetic disorder first described by the pediatricians Sanjad and Sakati in 1988. It is also known as Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRD).
Etymology
The syndrome is named after the two pediatricians, Dr. Sami Sanjad and Dr. Nadia Sakati, who first described the condition in 1988. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Definition
Sanjad-Sakati Syndrome is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial features. These features include microcephaly (small head size), deep-set eyes, a thin upper lip, a beaked nose, and large, low-set ears.
Symptoms
The primary symptoms of Sanjad-Sakati Syndrome include:
- Hypocalcemia (low calcium levels in the blood)
- Hypoparathyroidism (underactive parathyroid glands)
- Intellectual disability
- Growth retardation
- Microcephaly (small head size)
- Facial dysmorphism (distinct facial features)
Causes
Sanjad-Sakati Syndrome is caused by mutations in the TBCE gene, which provides instructions for making a protein that is involved in the formation of tubulin, a protein that helps to form the cell's structure.
Diagnosis
Diagnosis of Sanjad-Sakati Syndrome is based on clinical features, laboratory findings of hypocalcemia and hypoparathyroidism, and genetic testing confirming a mutation in the TBCE gene.
Treatment
Treatment for Sanjad-Sakati Syndrome primarily involves managing the symptoms. This may include calcium and vitamin D supplements to manage hypocalcemia, and growth hormone therapy to address growth retardation.
See Also
References
- Sanjad, S., Sakati, N., Abu-Osba, Y., Kaddoura, R., & Milner, R. (1988). A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Archives of Disease in Childhood, 63(1), 25–30.
External links
- Medical encyclopedia article on Sanjad-Sakati syndrome
- Wikipedia's article - Sanjad-Sakati syndrome
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