What does Barakat syndrome do?
What does Barakat syndrome do?
First described by Barakat, et al in 1977, the Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by three characteristics: hypoparathyroidism (H) (decreased function of the parathyroid glands which are small endocrine glands in the neck whose main …
What is Barakat?
Barakat (Arabic: بركات) is an Arabic word meaning blessings.
Who discovered Barakat syndrome?
Barakat syndrome, is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It was first described by Amin J. Barakat et al. in 1977.
What ethnicity is Barakat?
Barakat (in Arabic بركات) is an Arabic surname. It is the plural form of Barakah (بركة) meaning blessing. Notable people with the surname include: Adib Barakat (born 1982), Syrian footballer.
What is the life expectancy of someone with Bardet Biedl syndrome?
Kidney disease is also frequent and is a major cause of early death for individuals with BBS, though complications of obesity, heart disease, and diabetes have also been reported as causes of death. However, a majority of individuals may have a normal or near-normal life expectancy, though with various impairments.
What causes Carpenter syndrome?
Most cases are caused by mutations in the RAB23 gene. In several affected individuals, Carpenter syndrome was caused by mutations in the MEGF8 gene; these individuals are referred to as having Carpenter syndrome type 2. Both types of Carpenter syndrome are inherited in an autosomal recessive manner.
How is Carpenter syndrome diagnosed?
Diagnosis. Since Carpenter syndrome is a genetic disorder, an infant is born with it. Diagnosis is based on the symptoms the child has, such as the appearance of the skull, face, fingers, and toes. There is no blood test or X-ray needed; Carpenter syndrome is typically diagnosed solely through a physical examination.
How do you pronounce Barakat?
- Phonetic spelling of Barakat. barakat. BaaR-ahKaaT. Bah-Rah-CAT.
- Meanings for Barakat. It is an Arabic surname.
- Translations of Barakat. Turkish : Baran. Japanese : バラカット Arabic : بركات Chinese : 巴拉卡特 Russian : Баракат
What kind of diseases do people with Barakat syndrome have?
Barakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various combinations of these features.
How is Barakat syndrome diagnosed without genetic testing?
[3] [2] In some cases, the genetic cause is unknown. Barakat syndrome can be clinically diagnosed (without genetic testing) in a person with the complete triad of hypoparathyroidism, sensorineural deafness, and renal disease; or, in a person with two of these features who also has a positive family history.
What is the treatment for hypocalcemia Barakat syndrome?
Treatment for Barakat syndrome depends on the symptoms present and the severity in each person. Hypocalcemia may be treated with oral calcium and calcitriol, intravenous calcium gluconate, or parathyroid hormone injection.