Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
Epidemiology
It has been described in two families (with at least seven affected persons).
Clinical description
Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.
Genetic counseling
Inheritance is likely to be autosomal dominant with variable expressivity.