This is a multiple congenital anomaly syndrome involving central nervous system, face and eyes, skeleton and genitourinary system. The main clinical features defining this multiple congenital syndrome are holoprosencephaly, agenesis of corpus callosum, intellectual disability, cerebellar vermis hypoplasia, microphthalmia-anophthalmia, short stature, skeletal dysplasia (short hands and digits, sex reversal in males and elevated creatinine kinase.
This is an ultra-rare condition inherited in an autosomal recessive manner. Till date three families are reported with biallelic sequence variants in HHAT (Hedgehog acyltransferase) gene.
HHAT