Living with Schilbach-Rott syndrome
A rare inherited condition with close-set eyes, narrow eye openings, a cleft palate, and often hypospadias in boys.
Understanding Schilbach-Rott syndrome
Facial features include eyes set close together (hypotelorism), narrow eye openings (blepharophimosis), and a cleft palate. Hypospadias (the urine opening on the underside of the penis) occurs often in males. It begins in the newborn and infant period.
Signs & symptoms
GARD doesn't list common symptoms for this condition. It reports these less common features:
- Close-set eyes
- Narrow eye openings
- Cleft palate
- Hypospadias in males
- Mild intellectual disability
- Short stature
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 genetic specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- 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 rare disease patient organizations for support
- 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
GARD lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It does not name a gene.
Also known as: brss; cleft palate, hypotelorism, and hypospadias; hypotelorism-cleft palate-hypospadias syndrome; hypotelorism, cleft palate, hypospadias syndrome; ocular hypotelorism, submucosal cleft palate, and hypospadias; schilbach rott syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Schilbach-Rott syndrome.
Explore research for Schilbach-Rott syndrome
Explore actively recruiting Schilbach-Rott syndrome studies with HealthSpark.
Find actively recruiting studies for Schilbach-Rott syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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