Living with X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
A rare genetic condition that affects only females, with developmental delay, distinct facial features, short stature, and blocked nasal passages.
Understanding X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Facial features can include facial asymmetry, a prominent forehead, and low-set ears. People may be short, have a blocked or narrow nasal airway (choanal atresia), or have scoliosis. Some have eye, tooth, heart, or urinary and reproductive differences at birth. Low muscle tone, seizures, and brain differences can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Moderate intellectual disability
- Short stature
- Blocked nasal airway (choanal atresia)
- Low muscle tone in infancy
- Brain structure differences
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.
- 3Consider genetic testing
Changes in USP9X 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
- 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
This condition is caused by changes in the USP9X gene and follows X-linked inheritance.
Also known as: x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; x-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females; x-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females; x-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
Patient organizations
- Simons SearchlightX-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability.
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