Living with Acrocraniofacial dysostosis
A very rare condition with short height, a tall head shape, facial and hand differences, and hearing loss.
Understanding Acrocraniofacial dysostosis
Features include short stature, a tall head shape, wide-set eyes, droopy eyelids, bulging eyes, cleft palate, a small jaw, and ear differences. Mixed hearing loss and bulbous fingers and toes are also described. It overlaps with otopalatodigital syndrome. GARD notes there have been no further descriptions in the medical literature since 1988. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Hearing loss (conductive)
- Small head size (microcephaly)
- Bulging eyes
- Nearsightedness
- Broad thumb
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 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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 changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: kaplan plauchu fitch syndrome; kaplan-plauchu-fitch syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acrocraniofacial dysostosis.
Explore research for Acrocraniofacial dysostosis
Explore actively recruiting Acrocraniofacial dysostosis studies with HealthSpark.
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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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