Flat face-microstomia-ear anomaly syndrome

Orpha code: 1968OMIM code: 182150

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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