Flat face-microstomia-ear anomaly syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 June 2024

Newly diagnosed with
Flat face-microstomia-ear anomaly syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.