Living with Cleft palate-large ears-small head syndrome
A rare genetic syndrome with cleft palate, large ears, a small head, and short stature starting before birth.
Understanding Cleft palate-large ears-small head syndrome
Short stature begins before birth. Other features include bone differences, Pierre Robin sequence, kidney cysts and kidney tubule problems (proximal renal tubular acidosis), hypospadias, brain differences on imaging, seizures, low muscle tone, and developmental delay. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Small head size (microcephaly)
- Large, protruding ears
- Short stature
- Drooping upper eyelids
- Funnel chest (pectus excavatum)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD lists this condition as autosomal dominant but doesn't name a gene.
Also known as: cleft palate, large ears, small head syndrome; cleft palate, microcephaly, large ears, and short stature; say barber hobbs syndrome; say-barber-hobbs 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 Cleft palate-large ears-small head syndrome.
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