Living with Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
A rare genetic condition with developmental delay, speech difficulty, feeding problems, heart differences, and distinctive facial features.
Understanding Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Babies often have low muscle tone and feeding difficulties. Speech may be delayed, limited, or absent. Facial features can include a broad nasal tip and a thin upper lip. A small head, frequent infections, and stomach, gut, or eye differences have also been described. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay and intellectual disability
- Feeding difficulties and acid reflux
- Heart wall defects (atrial or ventricular septal defects)
- Small head (microcephaly)
- Crossed eyes and drooping eyelids
- Early closing of skull bones (craniosynostosis)
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in KAT6A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 KAT6A Foundation
- 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 the KAT6A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: arboleda tham syndrome; arboleda-tham syndrome; arths; autosomal dominant intellectual disability 32; autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome; intellectual disability, autosomal dominant type 32
Patient organizations
- KAT6A FoundationAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome.
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