Tatton-Brown-Rahman syndrome


Engelsk navn: Tatton-Brown-Rahman syndrome
Engelske synonym: DNMT3A-related overgrowth syndrome,Tatton-Brown-Rahman overgrowth syndrome


Definisjon

A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability and subtle distinctive facial features, which often become apparent during adolescence, such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors. Joint hypermobility, hypotonia and scoliosis are common.

Fra Orphanet

ORPHA: 404443
Klassifiseringsnivå: Disorder
ICD-10: Q87.3

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