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Flat face-microstomia-ear anomaly syndrome

Disease 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.

ORPHA:1968

Classification level: Disorder
  • Synonym(s):
    • Blepharophimosis-telecanthus-microstomia syndrome
    • Simosa craniofacial syndrome
    • Simosa-Penchaszadeh-Bustos syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 182150
  • UMLS: C1866962
  • MeSH: -
  • GARD: 4873
  • MedDRA: -
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