Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS) is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
People with this disorder often show the following symptoms:
It is caused by an autosomal recessive mutation in PIGN (gene), on chromosome 18. It is caused by a C to A nucleotide substitution.
Only 15 cases of this syndrome have been reported in medical literature.