Search for a rare disease
Other search option(s)
Radial ray hypoplasia-choanal atresia syndrome
Disease definition
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
ORPHA:3026
Classification level: DisorderSummary
Epidemiology
It has been reported in a father and his two daughters.
Clinical description
The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.
Genetic counseling
The condition is most probably hereditary, transmitted as an autosomal dominant trait.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.