What are the signs and symptoms of trisomy 13?

Some signs and symptoms of trisomy 13, also known as Patau syndrome, may include:

1. Severe intellectual disability
2. Heart defects
3. Cleft lip and/or palate
4. Small head (microcephaly)
5. Small eyes (microphthalmia)
6. Extra fingers or toes (polydactyly)
7. Scalp defects (such as missing skin or hair)
8. Kidney abnormalities
9. Seizures
10. Breathing difficulties
11. Feeding difficulties
12. Hearing loss
13. Vision problems
14. Developmental delays
15. Growth retardation

It is important to note that the signs and symptoms of trisomy 13 can vary widely among individuals, and not all individuals with the condition will have all of these features. Additionally, some individuals with trisomy 13 may have other health issues not listed here.

Physical Features:

- Facial anomalies: Cleft lip and palate, microcephaly (small head), hypertelorism (wide-set eyes)
- Holoprosencephaly (absence of division of the brain and face)
- Microphthalmia (abnormally small eyes)
- Retinal detachment or coloboma (hole in the eye)
- Nuchal edema (thickening of the skin behind the neck)
- Nasal malformations (bulbous or short nose)
- Polydactyly (extra fingers or toes)
- Rocker-bottom feet (feet curved upward)
- Congenital heart defects

Developmental and Neurological:

- Intellectual disability
- Severe growth retardation
- Microcephaly (small head circumference)
- Facial dysmorphism
- Seizures
- Delayed motor development
- Hypotonia (low muscle tone)

Other Signs and Symptoms:

- Kidney abnormalities (hypoplasia or agenesis)
- Gastrointestinal malformations (intestinal atresia or malrotation)
- Genital abnormalities (hypospadias or micropenis)
- Cleft palate
- Esophageal atresia (absence of an esophageal connection)
- Hydrocephalus (fluid accumulation in the brain)
- Respiratory distress
- Feeding difficulties