Mosaic Down Syndrome – Pictures, Characteristics, Life

What is Mosaic Down Syndrome (MDS)?

Mosaic down syndrome is a common genetic disorder. The syndrome is related to excessive cell division which causes extra genetic material in Chromosome 21. The genetic disorder varies from person to person and severity. It is one of the common disorders that cause lifelong disabilities especially in intellectual properties. It has been observed that the Mosaic Down syndrome affects the person very badly, however, if it is treated at an early stage then the quality of life of the patient can be improved by a considerable amount.

Symptoms of Mosaic Down Syndrome

It is very important to identify and understand the symptoms of the Mosaic Down syndrome. Observation can help to improve the life of the patient. Mosaic Down syndrome is a genetic disorder and therefore the systems are very crucial for the further course of life.

Infants born with the MDS have distinct facial appearances. However, everyone with Mosaic Down syndrome does not have the similar features but these are very common. The facial features are flattened, and the head is considerably smaller than the normal size. The neck also appears smaller than normal. The tongue also appears protruding for the infants suffering from Mosaic Down syndrome. The other facial appearances for Mosaic Down syndrome are the following.

  •    Slanting eyes towards up
  •    Small ears or abnormally shaped
  •    Very poor muscle toning
  •    Broad and short hands with only a single crease on the palm
  •    Fingers are smaller in size than normal
  •    Very flexible body
  •    Brushfield spots on the Iris of the eye (White Spots)
  •    Short height or stunt growth

The children suffering from the Mosaic Down syndrome face growth issue along with the development progress. It has been observed that Mosaic Down syndrome patients generally learn things very late. If the normal cases are concerned then they learn crawling or walking at about double time. The growth of the kids also gets reduced. The children don’t grow much, and their height remains on the shorter side. The mental development of the Mosaic Down syndrome kids is considerably on the lower side.

These symptoms are very crucial for the family to observe. If any of the symptoms is observed in the kids then, it should be immediately brought to the notice of a doctor. If the syndrome is diagnosed at an early stage then, the child’s life can be easier in the future.

Characteristics of Mosaic Down Syndrome

The patient suffering with MDS exhibits physical characters similar to Down’s syndrome that causes due to extra 21st chromosome. However, the features are less visible in Mosaic Down syndrome. Listed below are the characteristics of patient suffering with Mosaic Down syndrome.

  •    Development of flat back head
  •    Mostly the neck appears to be webbed.
  •    Less density of perfectly straight hairs
  •    Flatness of the nasal bridge
  •    Almond shaped eyes.
  •    Presence of the loose joint
  •    Presence of more space between first and second toe
  •    Presence of protruding tongue.
  •    Presence of dry skin

Apart from the physical condition, the patients facing Mosaic Down syndrome also faces several medical conditions. The medical condition includes following.

  •    Prevalence of abnormal eye ailment.
  •    Prevalence of common ear and nose infections
  •    Retarded growth of bones and teeth.
  •    Mosaic Down syndrome accompanies leukemia in most patients.
  •    Adolescent obesity for Mosaic Down syndrome patients
  •    Presence of weaker immune system
  •    Underactive thyroid gland.
  •    Reduced fertility is observed in some cases of Mosaic Down syndrome
  •    With age Mosaic Down syndrome, patients develop dementia.
  •    Premature gaining and appearance of cataract is common in Mosaic Down syndrome.

Treatment of MDS

MDS is a genetic disorder that does not have any cure or treatment. The disorder stays for a lifetime. However, complications related with the disorder can be treated. Medical support and treatment can help the patients with Mosaic Down syndrome to lead active and healthy life. In some cases, physiotherapy has been effective in curing joint pain in patients suffering from Mosaic Down syndrome. Regular medical checkup is advisable for patients suffering from a genetic disorder. In babies, regular dental check up is also advisable to monitor the growth of teeth. Medical practitioners also encourage a healthy diet with regular exercise that reduces the risk of obesity.

Life expectancy of MDS

The life expectancy of people suffering from Mosaic Down syndrome is around 66 years. It is important to note that Mosaic Down syndrome is not a fatal disorder, but the medical complications left untreated can prove to be fatal.

Pictures of Mosaic Down Syndrome

mosaic down syndrome image

Picture 1

mosaic down syndrome chromosome

Picture 2 – Observe 21st Chromosome

mosaic down syndrome graph

Picture 3 – Down Syndrome Vs Mosaic Down Syndrome Graph

7 thoughts on “Mosaic Down Syndrome – Pictures, Characteristics, Life

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  • 07/03/2017 at 2:09 AM

    As far as I know this isn’t correct. What you describe is Down Syndrome Trisomy 21. MDS is different in that the DS characteristics may or may not be present.

  • 30/04/2017 at 10:29 PM

    From what I’ve studied, MDS is actually much less severe than regular DS. The features are less obvious, and the health/mental development is much more typical. Basically everything you write in this article it’s the description for regular DS, not MDS

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  • 17/03/2018 at 2:25 PM

    This information is inaccurate! It’s describing regular DS. Our daughter has MDS and doesn’t have the one crease across the palm. MDS is not as severe. You don’t mention bowel and heart conditions which is also common in DS. The article would make depressing reading for new parents of DS as it is quite negative.

    • 10/04/2022 at 2:33 AM

      My granddaughter has been diagnosed with mosiac downs syndrome. I noticed bright red feet and mottled when touch bluish area with fingers, fingerprints stay and whiten. It is not pitting
      I told my son that he needs to make appt to Dr and he said he made one already a month from now. They r going to flat for yen days vacation and taking baby with them. She is three. They put her in preschool already where she caught covid. She has been sent back twice now. Her nose is running and she is acting irritable and aggtaes easily. I am worried. My son tends to exnore my concerns and interprets them as me saying the mother is not doing good job. I also as tried to warn them before preschool not to send her bmom worked from home


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