Living with Sanjad sakati syndrome
A genetic condition with low parathyroid hormone, slow growth, small head size, seizures, and intellectual disability.
Understanding Sanjad sakati syndrome
Features include low parathyroid hormone (hypoparathyroidism), slow growth, seizures, a small head size, and differences in the face, eyes, and teeth. Hands and feet are short. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low parathyroid hormone (hypoparathyroidism)
- Intellectual disability
- Slow growth
- Small head size (microcephaly)
- Tooth and enamel differences
- Repeated breathing infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in TBCE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
HypoPARAthyroidism Association, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: HypoPARAthyroidism Association, Inc.
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HypoPARAthyroidism Association, Inc.
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TBCE gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hrd syndrome; hrds; hypoparathyroidism with short stature, intellectual disability and seizures; hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-retardation-dysmorphism syndrome; hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Patient organizations
- HypoPARAthyroidism Association, Inc.Sanjad sakati syndrome · United States
You are more than your diagnosis
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