Living with Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
A rare genetic syndrome with a small head, short stature, developmental delay, and certain facial and hand features.
Understanding Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
People have a head that grows slowly after birth, trouble gaining weight, short stature, global developmental delay, intellectual disability, and low muscle tone. Certain facial and hand features are present, and some are seen at birth. Other features can include temporary swelling after birth, nearsightedness, eyes that turn, and low thyroid hormone. Signs begin in the newborn period or infancy.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Small head that grows slowly after birth
- Trouble gaining weight and short stature
- Delays in reaching developmental milestones
- Intellectual disability
- Low muscle tone (hypotonia)
- Nearsightedness (myopia) and eyes that turn (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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in QARS1 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 rare disease patient organizations for support
- 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 QARS1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome.
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