Multiple congenital anomalies-hypotonia-seizures syndrome | |
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Specialty | Medical genetics |
Symptoms | Hypotonia, congenital anomalies and seizures |
Complications | Early death |
Usual onset | Birth |
Duration | Life-long (short life span) |
Types | 1, 2, 3, 4 |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Bad |
Frequency | very rare, only 15 cases have been reported in medical literature. |
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.[1]
People with this disorder often show the following symptoms:[2]
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.[3][4][5][6]
Only 15 cases of this syndrome have been reported in medical literature.[7]