Living with AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
A neurological condition (Xia-Gibbs syndrome) with low muscle tone, intellectual disability, and delays in speech and movement.
Understanding AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
People have weak muscle tone, mild to severe intellectual disability, and delayed development. Speech is especially affected. Many children say their first word at age 2 or later, and some never learn to talk. Crawling and walking can also be delayed. Many people have short pauses in breathing during sleep (obstructive sleep apnea).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Delayed walking
- Low muscle tone (hypotonia)
- Trouble with balance and coordination (ataxia)
- Seizures
- Crossed eyes (strabismus)
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 and genetic specialists.
- 3Consider genetic testing
Changes in AHDC1 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)
- 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 Simons Searchlight 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 the AHDC1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome; ahdc1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome; at-hook dna binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome; autosomal dominant intellectual disability 25; mrd25; xia gibbs syndrome
Patient organizations
- Simons SearchlightAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome · United States
- Xia-Gibbs SocietyAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome.
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