Trisomy 13 Syndrome Symptoms
Trisomy 13 Syndrome also referred to as Patau syndrome is a condition or a disorder in which all or a part of chromosome 13 appears 3 times rather than 2 times in cells of body. In most of the cases the extra chromosome is fully developed and appears in all cells while in other cases it develops partially and is present only in some cells. There are many different symptoms of Trisomy 13 Syndrome.
The symptoms of Trisomy 13 Syndrome depend on the type the body's cells impacted and the degree at which they are impacted. The range and severity of the Trisomy 13 syndrome symptoms may depend on the location of the trisomic portion of the chromosome 13 and also the percentage of abnormal cells. Since the symptoms of Trisomy 13 Syndrome can vary with individual it is difficult to predict which of the symptoms a particular infant will have because of Trisomy 13 syndrome. Some of the symptoms of Trisomy 13 Syndrome include some abnormalities like:
- Severe mental retardation
- Developmental delays
- Microphthalmia - Unusual small eyes
- Coloboma - An iris tissue defect
- Cleft palate - Incomplete closure of the roof of the mouth
- Cleft lip - An abnormal groove in the upper lip
- Cryptorchidism - Undescented testes in male child
- Extra number of fingers and toes
Some of the symptoms of Trisomy 13 Syndrome include malformations of head and facial area like:
- Underdeveloped Nose - A broad and flat nose
- Cutis aplasia - Scalp defects
- Microcephaly - relatively small head
- Sloping forehead
- Ocular hypertelorism - widely set eyes
- Holoprosencephaly - failure of the forebrain to divide properly
- Incomplete development of certain regions of the brain like forebrain
- Anophthalmia
- Low-set ears
- Epicanthal folds - inner corners
- Vertical skin folds covering the eyes
In more than 80 percent of the children affected by Trisomy 13 Syndrome the physical symptoms include structural heart defects like:
- Ventricular septal defect - An abnormal opening in the partition dividing the upper or lower chambers of the heart
- Atrial septal defect
- Dextrocardia
- Patent ductus arteriosus - Persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart
The other symptoms of Trisomy 13 Syndrome include:
- Kidney (renal) malformations
- Genital development complications
- Seizures
- Growth failure
- Malnutrition
- Failure to thrive
- Severe feeding difficulties
- Simian crease
- Hypotonia - diminished muscle tone
- Hernias
- Pinna abnormalities
- Omphalocele
- Micrognathia
- Sleep Apnea - Episodes in which there is temporary cessation of spontaneous breathing
- Skeletal abnormalities
Trisomy 13 Syndrome can be detected before birth by ultrasound testing, chorionic villus sampling and amniocentesis. But if any of the above symptoms are visible after the birth, karyotyping testing is performed to confirm the condition. Since most of the symptoms of Trisomy 13 Syndrome are severe and appear at birth, most infants diagnosed with Trisomy 13 syndrome do not live past their first year.