The list of signs and symptoms mentioned in various sources for Patau syndrome includes the 5 symptoms listed below:
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Infants with trisomy 13 syndrome may present with microcephaly, varying degrees of holoprosencephaly, sloping forehead with wide sutures and fontanel, and a scalp defect at the vertex. Micro-ophthalmia, cataracts, and other eye abnormalities are seen in most patients with full trisomy 13. Bilateral cleft lip with associated cleft palate is seen in at least 45% of patients. Most are born with a congenital heart defect, especially hypoplastic left heart, ventricular septal defect, patent ductus arteriosus, or dextroposition, which may significantly contribute significantly to the cause of death.
Other possible findings include a flat and broad nose, low-set ears and inner ear abnormalities, polydactyly of the hands and feet, club feet, omphaloceles, neural tube defects, cystic hygroma, genital abnormalities, cystic kidneys, hydronephrosis, and musculoskeletal abnormalities. Affected infants may also experience failure to thrive, seizures, apnea, and feeding difficulties.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Growth retardation begins in utero and remains significant after birth. Initial hypotonia may soon give way to hypertonia. Common findings include microcephaly and dolichocephaly, micrognathia, genital and perineal abnormalities (including imperforate anus), diaphragmatic hernia, and various renal defects. Congenital heart defects, such as ventricular septal defect, tetralogy of Fallot, transposition of the great vessels, and coarctation of the aorta, occur in 80% to 90% of patients and may be the cause of death in many infants.
Other findings may include a short and narrow nose with upturned nares; unilateral or bilateral cleft lip and palate; low-set, slightly pointed ears; a short neck; a conspicuous clenched hand with overlapping fingers (usually seen on ultrasound as well); neural tube defects; omphalocele; cystic hygroma; choroid plexus cysts (also seen in some healthy infants); and oligohydramnios.
Source: Professional Guide to Diseases (Eighth Edition), 2005
When considering symptoms of Patau syndrome, it is also important to consider Patau syndrome as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Patau syndrome may cause:
These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
The symptom information on this page attempts to provide a list of some possible signs and symptoms of Patau syndrome. This signs and symptoms information for Patau syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Patau syndrome signs or Patau syndrome symptoms. Furthermore, signs and symptoms of Patau syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Patau syndrome symptoms.
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