Holoprosencephaly-radial heart renal anomalies syndrome
ORPHA:3186· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. 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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal