Living with Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
An extremely rare condition with delayed speech, a slightly uneven face, crossed eyes, and creased earlobes.
Understanding Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Features include delayed speech development, mild facial asymmetry, crossed or misaligned eyes (strabismus), and creases across the earlobes. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Crossed eyes (strabismus)
- Facial asymmetry
- Drooping upper eyelid (ptosis)
- Creases in the earlobes
- Intellectual disability
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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
GARD says changes in genes cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: mehes syndrome; speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease
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 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome.
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