Living with Zechi-Ceide syndrome
A rare genetic condition with a bulge at the back of the head, cleft lip or palate, missing teeth and distinct facial features.
Understanding Zechi-Ceide syndrome
Facial features include a prominent forehead, narrow eye openings, a flat midface, a broad nose, a thin upper lip and cleft lip or palate. People also have severely missing teeth (oligodontia) and large feet with a gap between the first and second toes. Intellectual disability, developmental delay and small finger and toenails have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bulge at the back of the head (atretic occipital cephalocele)
- Cleft lip and cleft palate
- Many missing teeth (oligodontia)
- Hearing loss from the middle ear (conductive)
- Global developmental delay
- Gap between the first and second toes (sandal gap)
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 and genetic 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)
- 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 There Is Hope: Encephalocele Awareness
- 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 doesn't name a gene for this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: occipital atretic cephalocele-unusual facies-large feet syndrome; occipital atretic cephalocele, unusual facies and large feet; occipital atretic cephalocele, unusual facies, large feet syndrome; zechi ceide syndrome
Patient organizations
- There Is Hope: Encephalocele AwarenessZechi-Ceide syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Zechi-Ceide syndrome.
Explore research for Zechi-Ceide syndrome
Explore actively recruiting Zechi-Ceide syndrome studies with HealthSpark.
Find actively recruiting studies for Zechi-Ceide syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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