Genetic diseases

Patau Syndrome

Patau Syndrome

Patau Syndrome photo Patau Syndrome (trisomy of chromosome 13 syndrome) - a serious incurable hereditary chromosomal disorder in which the patient present an extra copy of chromosome 13 (trisomy 13).The incidence of Patau syndrome among newborns - 1: 5000-7000 (sex ratio 50: 50%).Children with the disease are born full-term, in time, although resemble premature

Patau Syndrome symptoms, signs

Due to the presence of an extra 13 chromosome interfere with the normal development of the child, resulting in the presence of severe birth defects like:

- Inadequatethe development of the facial bones and the cranium

- From the digestive system pathology presented incomplete turning bowel

- the part of the supporting - motor apparatus observed abnormal anatomy of the feet and hands (often occurs symmetrical polydactyl on the feet and on the hands)

- Cardio - vascular pathologic changes expressed in malformations of major vascular defects partitions etc.

- In all cases, there are persistent viola

tions of intellectual

- the part of the central nervous system there is underdevelopment of basic brain structures

-With the genitourinary system are observed such defects genitals as undescended testicles into the scrotum (cryptorchidism), hypoplasia of the external genitalia, distal missing back wall of the urethra (hypospadias), two-horned uterus, doubling of the uterus and vagina

- observe such anomalies of the kidneysas cysts, a doubling of the ureter and pelvis, hydronephrosis Patau Syndrome photo

main manifestations of the syndrome Patau : trigonocephaly (skull narrowed in the frontal part and widened in the occipital), microcephaly, epikatn microphthalmia, narrow eye slits, patchy absence of the iris, cataract, maybe noeyeball;malformed low-set ears;the broad base of the nose, sunken bridge of the nose;cleft palate and lip, micrognathia.

diagnosis of Patau syndrome is set based on the clinical picture and the combination of characteristic of this disease malformations.In case of suspicion of Patau syndrome, is shown holding ultrasound of internal organs

Patau Syndrome treatment

Patau syndrome, non-specific treatment, including the operations of the fact of birth defects, obligatory prevention of infectious and colds, conducting restorative treatment.Most children born with the syndrome Patau, due to the presence of severe malformations, die before they reach up to one year (95%), but there were cases when the life extension of up to five or even ten years has been to ensure prompt elimination of defects, nutritious mealsand meticulous care.

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