Living with Acrofacial dysostosis, Catania type
A rare condition present at birth with mild growth delay, a small head, learning challenges, and jaw and limb differences.
Understanding Acrofacial dysostosis, Catania type
Features include mild slow growth before birth, short stature, a small head, and intellectual disability. Facial differences include dental problems, a small jaw, and underdeveloped cheekbones. Limbs have mild shortening, short fingers, and mild webbing. Frequent cavities, hernias, and, in males, undescended testes or hypospadias may occur. 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:
- Small head size (microcephaly)
- Mild intellectual disability
- Short fingers and toes
- Dental differences and cavities
- Underdeveloped cheekbones
- Feeding difficulties in infancy
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 and World Craniofacial Foundation 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, 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 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 changes in genes (also called variants) cause this condition. It is listed as autosomal dominant or X-linked.
Also known as: acrofacial dysostosis catania type; afd catania type; opitz caltabiano syndrome; opitz mollica sorge syndrome; opitz-caltabiano syndrome
Patient organizations
- Little People of AmericaAcrofacial dysostosis, Catania type · United States
- World Craniofacial FoundationAcrofacial dysostosis, Catania type · United States
- Children's Craniofacial AssociationAcrofacial dysostosis, Catania type · United States
- myFaceAcrofacial dysostosis, Catania type · United States
You are more than your diagnosis
Perspectives from people navigating life with Acrofacial dysostosis, Catania type.
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