Living with Holoprosencephaly-radial heart renal anomalies syndrome
A rare condition seen before or at birth that affects the brain, arms and thumbs, heart, and kidneys.
Understanding Holoprosencephaly-radial heart renal anomalies syndrome
It includes holoprosencephaly, where the developing brain does not fully divide. Most people have missing or small thumbs and forearm bones, plus heart defects, kidney differences, and no gallbladder. Other features vary and can include spine differences, cleft lip or palate, small eyes, ear differences, and hearing loss. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Holoprosencephaly
- Absent or small thumb
- Underdeveloped forearm bones
- Absent gallbladder
- Cleft lip or palate
- Small eyes (microphthalmia)
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 kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations and other patient organizations
- 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
Changes in genes (also called variants) cause this condition. It is listed as autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: steinfeld syndrome
Patient organizations
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsHoloprosencephaly-radial heart renal anomalies syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Holoprosencephaly-radial heart renal anomalies syndrome.
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