flat face-microstomia-ear anomaly syndrome
Findings
No curated finding names flat face-microstomia-ear anomaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
Definition from the Mondo Disease Ontology (MONDO:0008421), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Abnormal antitragus morphologyHPOHP:0009896
- Very frequent (80% to 99% of cases)
- Abnormal tragus morphologyHPOHP:0009912
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the earlobesHPOHP:0009906
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Hypernasal speechHPOHP:0001611
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- Long faceHPOHP:0000276
- Very frequent (80% to 99% of cases)
- Long noseHPOHP:0003189
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: flat face-microstomia-ear anomaly syndrome
- Also called
- blepharophimosis-telecanthus-microstomia syndromeSimosa-Penchaszadeh-Bustos syndrome