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Bohring-Opitz syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.


Classification level: Disorder
  • Synonym(s):
    • BOS syndrome
    • Bohring syndrome
    • C-like syndrome
    • Oberklaid-Danks syndrome
    • Opitz trigonocephaly-like syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 605039
  • UMLS: C0796232
  • MeSH: C537419
  • GARD: 10140
  • MedDRA: -

Detailed information

General public

Disease review articles

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