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Jung syndrome
Disease definition
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
ORPHA:2321
Classification level: DisorderDetailed information
Professionals
- Anesthesia guidelines
- Czech (2017)
- English (2017)
- Español (2017)
- Guidance for genetic testing
- Français (2016, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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