Hypoparathyroidism-sensorineural deafness-renal disease syndrome

What it is

From: Orphanet

Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Hypoparathyroidism · Obligate (100%)

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.

Progressive sensorineural hearing impairment · Obligate (100%)

A progressive form of sensorineural hearing impairment.

Renal dysplasia · Obligate (100%)

The presence of developmental dysplasia of the kidney.

Hydronephrosis · Frequent (79-30%)

Severe distention of the kidney with dilation of the renal pelvis and calices.

Hypocalcemia · Frequent (79-30%)

The concentration of calcium in the blood circulation is below the lower limit of normal.

Parathyroid hypoplasia · Frequent (79-30%)

Developmental hypoplasia of the parathyroid gland.

Polycystic kidney dysplasia · Frequent (79-30%)

The presence of multiple cysts in both kidneys.

Renal insufficiency · Frequent (79-30%)

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

Unilateral renal agenesis · Frequent (79-30%)

A unilateral form of agenesis of the kidney.

Vesicoureteral reflux · Frequent (79-30%)

Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.

Hypocalcemic seizures · Frequent (79-30%)

Diabetes mellitus · Occasional (29-5%)

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Septate vagina · Occasional (29-5%)

The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.

Uterus didelphys · Occasional (29-5%)

A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormal heart morphology (Very rare (<4-1%)); Abnormality of T cell physiology (Very rare (<4-1%)); Aplasia of the uterus (Very rare (<4-1%)); Cleft palate (Very rare (<4-1%)); Psoriasiform dermatitis (Very rare (<4-1%)); Rod-cone dystrophy (Very rare (<4-1%)); Severe postnatal growth retardation (Very rare (<4-1%)); Vaginal atresia (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Point prevalence: <1 / 1 000 000; Worldwide; Class only. Reported case(s): 180.0; Worldwide. This is a published case count, not prevalence.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Hypoparathyroidism-sensorineural deafness-renal disease syndrome is Nephrology, with a nephrologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• How is kidney function being assessed over time?
• Are any current medicines or supplements relevant to kidney safety?
• Is there an individual recommendation about fluids, diet or blood pressure?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Hypoparathyroidism-sensorineural deafness-renal disease syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.