Flat face-microstomia-ear anomaly syndrome

Orpha code: 1968OMIM code: 182150

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.

Disease data
Classification

Malformation syndrome

Synonyms
Blepharophimosis-telecanthus-microstomia syndrome
Zespół Simosa'a, Penchaszadeha i Bustosa
Zwężenie szpary powiekowej - telekantus - mikrostomia
Simosa craniofacial syndrome
Simosa-Penchaszadeh-Bustos syndrome
ORPHA code
1968
OMIM code
182150
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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