Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HDR syndrome; Nephrosis, nerve deafness, and hypoparathyroidism
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;
Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia), which can cause symptoms such as muscle pain, muscle spasms,
Most cases of Barakat syndrome are caused by
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. Hearing loss may be treated with hearing amplification and/or cochlear implantation. Treatment of kidney disease depends on the abnormality present. Some minor abnormalities may not need to be treated while others may require medications, surgery, or kidney transplantation. The long-term outlook (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|100% of people have these symptoms|
Decreased parathyroid hormone secretion
|Progressive sensorineural hearing impairment||0000408|
|30%-79% of people have these symptoms|
Low calcium seizures
Small parathyroid glands
Underdeveloped parathyroid glands
[ more ]
|Polycystic kidney dysplasia||0000113|
Renal failure in adulthood
[ more ]
|Unilateral renal agenesis||
Absent kidney on one side
Missing one kidney
[ more ]
|5%-29% of people have these symptoms|
|1%-4% of people have these symptoms|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart
[ more ]
|Abnormality of T
|Aplasia of the uterus||
[ more ]
Cleft roof of mouth
|Sensorineural hearing impairment||0000407|
|Severe postnatal growth retardation||
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
Abnormally closed or absent vagina
|Percent of people who have these symptoms is not available through HPO|
|Distal renal tubular acidosis||0008341|
Blood in urine
Too much calcium deposited in kidneys
High urine protein levels
Protein in urine
[ more ]
|Proximal renal tubular acidosis||0002049|
|Thickened glomerular basement membrane||0004722|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include familial idiopathic hypoparathyroidism, progressive sensorineural deafness without renal disease, autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay, and deletion 22q11 syndrome. HDR syndrome should be considered in infants prenatally diagnosed with chromosome 10p defect or congenital anomalies of the kidney and urinary tract.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Barakat syndrome. Click on the link to view a sample search on this topic.
- Barakat AJ, Raygada M, Rennert OM. Barakat syndrome revisited. Send to Am J Med Genet A. June, 2018; 176(6):1341-1348. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38693.
- Barakat Syndrome. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/barakat-syndrome/.
- HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR. Online Mendelian Inheritance in Man (OMIM). September 30, 2011; https://www.omim.org/entry/146255.