Flat face-microstomia-ear anomaly syndrome
Synonyms: Blepharophimosis-telecanthus-microstomia syndrome | Simosa craniofacial syndrome | Simosa-Penchaszadeh-Bustos syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Flat face-microstomia-ear anomaly syndrome?
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