Metopic ridging-ptosis-facial dysmorphism syndrome

Engelsk navn: Metopic ridging-ptosis-facial dysmorphism syndrome


A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.

Fra Orphanet

ORPHA: 502430
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

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