Living with Seckel syndrome
A genetic condition with slow growth, a very small head, intellectual disability, and distinct facial features.
Understanding Seckel syndrome
Facial features include large eyes, a beak-like nose, a narrow face, and a receding lower jaw. Some people also have blood differences. It begins during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head size (microcephaly)
- Intellectual disability
- Beaked nose and small lower jaw
- Early fusion of skull bones (craniosynostosis)
- Missing teeth and tooth enamel differences
- Very flexible joints and hip differences
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 bone and joint specialists, 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.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America 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 says it is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent. It does not name a gene in this record.
Also known as: bird-headed dwarf; bird-headed dwarf of seckel; bird-headed dwarfism; harper's syndrome; microcephalic primordial dwarfism; nanocephalic dwarf
Patient organizations
- Little People of AmericaSeckel syndrome · United States
- The MAGIC FoundationSeckel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Seckel syndrome.
Explore research for Seckel syndrome
Explore actively recruiting Seckel syndrome studies with HealthSpark.
Find actively recruiting studies for Seckel 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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