Paula and Bobby
Parents of Lillie
Hypoparathyroidism-Retardation-Dysmorphism syndrome (HRDS)
What is Hypoparathyroidism-Retardation-Dysmorphism syndrome (HRDS)?
Also known as Sanjad-Sakati syndrome, this rare genetic condition has been found mainly amongst children of parents of Arab descent or ethnicity. These parents are usually related to each other. This makes it extremely rare.
What gene changes cause Hypoparathyroidism-Retardation-Dysmorphism syndrome (HRDS)?
Changes to the TBCE gene are the cause of the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Hypoparathyroidism-Retardation-Dysmorphism syndrome (HRDS)?
The main symptoms of the syndrome include restricted growth, both before and after birth.
Hypoparathyroidism, with onset in infancy, is another common symptom. It is defined as when the body produces extremely low levels of the hormone, parathroyid. This hormone maintains the minerals, calcium and phosphorus in the body. This in turn causes involuntary muscle cramping and seizures.
Developmental delay and impared intellectual ability is another major symptom of the syndrome.
The unique facial characteristics of the syndrome include delayed growth, a short stature, a small head, deep-set eyes, a depressed nasal bridge, long philtrum, thin upper lip, beaked nose, very small lower jaw and large and floppy earlobes.
How does someone get tested for Hypoparathyroidism-Retardation-Dysmorphism syndrome (HRDS)?
The initial testing for Hypoparathyroidism-Retardation-Dysmorphism syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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