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.
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 PIGN (gene), on chromosome 18. It is caused by a C to A nucleotide substitution.
Epidemiology Only 15 cases of this syndrome have been reported in medical literature.
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