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.
References