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.

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.