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A rare, life-threatening mutliple congenital anomalies syndrome characterized by intrauterine growth restriction, postnatal failure to thrive and facial dysmorphism (microcephaly or trigonocephaly, prominent glabellar nevus flammeus (simplex) fading with age, hypotonic facies, low frontal and temporal hairline, hirsutism, synophrys, prominent or proptotic eyes, hypertelorism, upslanting palpebral fissures, depressed and wide nasal bridge, anteverted nares, full cheeks, low-set and posteriorly angulated ears, cleft lip and/or palate, high arched palate, micrognathia and/or retrognathia). A specific posture (BOS posture) is also reported, characterized by external rotation and/or adduction of the shoulders, flexion at the elbows and wrists, ulnar deviation of the wrists and/or the metacarpophalangeal joints. Additional features mainly include severe feeding difficulties, chronic emesis, recurrent infections, hypertrichosis, seizures, truncal hypotonia and hypertonic extremities, as well as cerebral, ocular, cardiac, and other skeletal anomalies, central obesity, severe intellectual disability, sleep disturbance, urinary retention, and an increased risk for renal stones and Wilms tumor.
ORPHA:97297Classification level: Disorder
- Clinical genetics review
- English (2018)