Jung syndrome

Orpha code: 2321OMIM code: 601427

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.

Disease data
Classification

Malformation syndrome

ORPHA code
2321
OMIM code
601427
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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