Down syndrome: external signs

Health And Medical Video: What Are Symptoms Of Down Syndrome? (June 2019).


External signs of Down syndrome, which occur after the birth of a child, indicate the presence of a chromosomal abnormality. They include cranial-facial changes, deformation of the bone and muscular system.

Down syndrome is a terrible diagnosis, but not a sentence. This is a chromosomal anomaly associated with the presence of 47 chromosomes in the human karyotype (normally 46 chromosomes). External signs of Down syndrome can diagnose this disease immediately after the birth of a child.

A risk group with a high probability of having children with Down syndrome

Down syndrome, or trisomy on 21 pairs of chromosomes, is one of the most studied and often encountered chromosomal pathologies of a person. The probability of having a child with Down syndrome does not depend on the ethnicity, geographical location, sex of the future child (the ratio of boys and girls with a pathology of 1: 1), but is directly related to the age of the spouse. In this case, the age of the father plays a minor role. The risk group with a high probability of birth of children with chromosomal pathology include:

  • Mother over 35 years old;
  • Families with relatives suffering from Down syndrome.

External signs of a child with Down syndrome

Children suffering from Down syndrome are usually overweight. Symptoms that indicate the presence of Down syndrome, are noticeable immediately after the birth of a child, and with age are more clearly defined. A neonatologist can diagnose trisomy in 21 pairs of chromosomes in a hospital with a 90% probability. The most common external signs of Down syndrome include:

  • Change of the skull and the front part (observed in 98% of cases);
  • Malformations of the bone and muscular system (in 100% of children);
  • Change related to the organ of vision (72%).

Cranial-facial changes

Cranial-facial dysmorphia are the main external manifestations of Down syndrome. This group includes: a characteristic Mongoloid eye cut, a well-developed third age-epicant, a shortened skull (brachycephaly), a narrow sky, flat back of the nose. These babies have a fairly large tongue, a change in the shape of the ear canals (small earlobes), a round and flattened face.

Changes in the musculoskeletal system

For the bone and muscular system is characterized by hypotension, in 100% of cases, low growth. In such people, short and large brushes, chetyrehpaltsevaya fold on the palm, slightly curled, hypertrophic joints. External symptoms of Down syndrome in a small number of children are manifested in deformation of the chest and shortening the middle phalanx of the fifth finger of the hand.

Changes in vision

In some cases, morphological features of Down's disease include changes in the organ of vision, in particular, obliquity, Brachthyld spots, and cloudiness of the lens.

By external signs of Down syndrome, you can put a Possible diagnosis right after the birth of a baby. But only studying the chromosomal set will allow to confirm this diagnosis or refute it.

Down syndrome: external signs
Category Of Medical Issues: Diseases