Living with Intellectual disability-hypotonic facies syndrome, X-linked, 1
An X-linked syndrome mostly described in males, with intellectual disability, facial differences, short stature, and foot differences.
Understanding Intellectual disability-hypotonic facies syndrome, X-linked, 1
Other features include low muscle tone early and stiffness later, foot deformities, delayed development, and behavior problems. It has been described in males from 11 families and in one isolated case. How common it is, is unknown.
Signs & symptoms
GARD lists seizures among the most common symptoms. Its summary also describes:
- Seizures
- Facial differences
- Short stature
- Low muscle tone early, then stiffness
- Foot deformities
- Delayed development and behavior problems
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 ATRX Research Alliance
- 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
In most cases it is caused by mutations in the ATRX gene on the X chromosome. In one large family, the gene was mapped to another region of the X chromosome. It is inherited in an X-linked recessive pattern.
Also known as: carpenter-waziri syndrome; chudley lowry hoar syndrome; chudley syndrome 1; chudley-lowry syndrome; chudley-lowry-hoar syndrome; holmes-gang syndrome
Patient organizations
- ATRX Research AllianceIntellectual disability-hypotonic facies syndrome, X-linked, 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability-hypotonic facies syndrome, X-linked, 1.
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