Living with Juberg-Hayward syndrome
A rare genetic condition with many bone differences, a small head, facial differences, and intellectual disability.
Understanding Juberg-Hayward syndrome
People also have differences in the urinary and reproductive organs and intellectual disability. Bones of the hands, arms, spine, and ribs can be affected, and some have a cleft in the mouth. It starts during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Hand and finger bone differences
- Fused forearm bones
- Cleft lip or palate
- Intellectual disability
- Curved spine (scoliosis)
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in ESCO2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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 the ESCO2 gene are listed. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: cleft lip/palate with abnormal thumbs and microcephaly; cleft lip/palate-abnormal thumbs-microcephaly syndrome; jhs; juberg hayward syndrome; orocraniodigital syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Juberg-Hayward syndrome.
Explore research for Juberg-Hayward syndrome
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- 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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