SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/773750003
http://purl.bioontology.org/ontology/SNOMEDCT/773750003
Preferred Name

Flat face, microstomia, ear anomaly syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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.
Synonyms
Simosa Penchaszadeh Bustos syndrome
Blepharophimosis, telecanthus, microstomia syndrome
Simosa craniofacial syndrome
Flat face, microstomia, ear anomaly syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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