multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities. multiple congenital anomalies-hypotonia-seizures syndromespecialtymedical geneticssymptomshypotonia, congenital anomalies and seizurescomplicationsearly deathusual onsetbirthdurationlife-long (short life span)types1, 2, 3, 4causesgenetic mutationpreventionnoneprognosisbadfrequencyvery rare, only 15 cases have been reported in medical literature. presentation people with this disorder often show the following symptoms: general hypotonia widespread developmental delays early-onset seizures heart patent foramen ovale atrial septal defect patent ductus arteriosus genito-urinary hydrocele renal collection system dilatation hydroureter hydronephrosis trabecular urinary bladder hypertrophy gastrointestinal gastroesophageal reflux anal stenosis imperforate anus ano-vestibular fistula facial coarse face occiput prominence bitemporal narrowing epicanthal folds hypertelorbitism nystagmus strabismus distracted eyes low-set prominent ears nasal bridge depression upward-facing nose long philtrum large, constantly open mouth thin lips high palate micro/retrognathia auricular auricle abnormalities causes it is caused by an autosomal recessive mutation in the pign gene, in chromosome 18, to be more specific; it is caused by a base pair substitution of c to a somewhere in the gene. epidemiology only 15 cases of this syndrome have been reported in medical literature.