Bohring-Opitz syndrome
Engelsk navn: Bohring-Opitz syndrome
Engelske synonym: BOS syndrome,Bohring syndrome,C-like syndrome,Oberklaid-Danks syndrome,Opitz trigonocephaly-like syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 97297
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
