Living with Flat face-microstomia-ear anomaly syndrome
A rare genetic syndrome present from birth with a flat face, small mouth and ear differences.
Understanding Flat face-microstomia-ear anomaly syndrome
Facial features include a high forehead, a long and flat midface, arched sparse eyebrows, a long nose, a long philtrum, a high narrow palate, and a small mouth with downturned corners. Ears are large, low-set, and rotated back, and speech may sound nasal. There have been no further descriptions in the medical literature since 1994.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Flat, long face
- High forehead
- Small mouth with downturned corners
- Large, low-set, back-rotated ears
- High, narrow palate
- Small lower jaw
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
Changes in genes cause it. It is autosomal dominant, which means one changed copy of a gene is enough. GARD doesn't name the gene.
Also known as: blepharophimosis-telecanthus-microstomia syndrome; blepharophimosis, telecanthus, microstomia syndrome; flat face, microstomia, ear anomaly syndrome; simosa craniofacial syndrome; simosa penchaszadeh bustos syndrome; simosa-penchaszadeh-bustos 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 Flat face-microstomia-ear anomaly syndrome.
Explore research for Flat face-microstomia-ear anomaly syndrome
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