Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome (also historically known as nephrogenic diabetes insipidus-intracranial calcification syndrome, or sometimes referenced under Orphanet code 3145) is an extremely rare genetic condition that affects multiple body systems. The hallmark feature is resistance to arginine vasopressin (AVP), the hormone that helps the kidneys concentrate urine. Because the kidneys do not respond properly to this hormone, affected individuals produce large volumes of very dilute urine and experience excessive thirst — a condition called nephrogenic diabetes insipidus. In addition to the kidney problem, people with this syndrome develop abnormal calcium deposits (calcifications) inside the skull, have notably short stature, and display distinctive facial features (facial dysmorphism) that may include a broad forehead, flat nasal bridge, or other subtle differences in facial structure. Because this syndrome is so rare, the full spectrum of symptoms and the underlying genetic cause are not yet completely understood. Diagnosis typically involves a combination of clinical evaluation, water deprivation testing to confirm vasopressin resistance, brain imaging to detect intracranial calcifications, and growth assessments. Treatment is mainly supportive: managing the diabetes insipidus with adequate fluid intake, thiazide diuretics, and sometimes nonsteroidal anti-inflammatory drugs to reduce urine output, along with growth monitoring and addressing any developmental or skeletal concerns. There is currently no cure, and management focuses on preventing dehydration and supporting overall growth and development.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.How severe is my child's vasopressin resistance, and what is the best way to manage it?,What do the intracranial calcifications mean for my child's brain development?,Should we pursue whole exome or whole genome sequencing to look for a genetic cause?,What are the signs of dangerous dehydration I should watch for at home?,Is growth hormone therapy appropriate for my child's short stature?,How often should brain imaging and kidney function tests be repeated?,Are there any clinical trials or research studies we could participate in?

Common questions about Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Related conditions

Other rare diseases commonly researched alongside Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome.

• Bartter syndrome→