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Deafness-epiphyseal dysplasia-short stature syndrome

Synonym(s) Chitty-Hall-Baraitser syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
ICD-10 -
MeSH -
MedDRA -


Disease definition

This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).


It has been described in two brothers born to consanguineous parents.

Clinical description

They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts.

Genetic counseling

This syndrome is transmitted as an autosomal recessive trait.

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