Living with Microcephaly-cleft palate syndrome
A rare syndrome with a small head, cleft palate, and other differences that can include eye and mild learning differences.
Understanding Microcephaly-cleft palate syndrome
This syndrome is marked by a small head (microcephaly) and a cleft in the roof of the mouth (cleft palate). Other features can vary and may include changes in the pigment of the retina, certain facial features, goiter, and mild intellectual disability. GARD notes there have been no further descriptions in the medical literature since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Cleft palate
- Split uvula (bifid uvula)
- Cleft in the bony part of the palate under the lining
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, 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
- Brain and nervous system specialists (neurologists); 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 genes (also called variants) cause this syndrome. GARD does not list the specific gene.
Also known as: halal syndrome; microcephalus cleft palate syndrome; microcephaly cleft palate syndrome; microcephaly-cleft palate-abnormal retinal pigmentation 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 Microcephaly-cleft palate syndrome.
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