Pseudotrisomy 13 syndrome

Overview

A very rare chromosomal disorder characterized mainly by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers.

Symptoms

* Extra finger * Underdeveloped midface * Holoprosencephaly * Build up of fluid inside skull * Wide set eyes * Narrow eye slits * Closely spaced eyes * Cardiac septal defect * Abnormal brain development * Small eyes * Small jaw * Cleft lip * Cleft palate * Choanal atresia * Underdeveloped adrenal cortex * Liver anomalies * Small penis * Extra toes * Pancreatic anomaly * Narrowed aqueduct of sylvius * Polycystic kidneys * Undescended testes

Diagnosis

* Fever Tests * Ear Infection Tests * Flu Tests