Can you have Down syndrome and not look like it?

Some of the children with Mosaic Down syndrome that we know do not actually look as if they have Down syndrome - the usual physical features are not obvious. This raises some important and difficult social issues and identity issues for both parents and children, which parents have discussed with us.

Can you be slightly Down syndrome?

Some have two copies of chromosome 21, and some have three. Mosaic Down syndrome occurs in about 2 percent of all Down syndrome cases. People with mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal.

Do I have mosaic Down syndrome?

A baby would be said to have mosaic Down syndrome if: 5 of the 20 cells have the typical number of 46 chromosomes. The other 15 have a total of 47 chromosomes due to an extra chromosome 21.

Can a child have Down syndrome and look normal?

' Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby's body and brain develop, which can cause both mental and physical challenges for the baby. Even though people with Down syndrome might act and look similar, each person has different abilities.

Can Down syndrome go undetected?

DSA|OC :: Down Syndrome Association Of Orange County

The most common reason for this late diagnosis is the lack of knowledge in the medical field on this rare form of Down syndrome. However, many individuals can go undiagnosed up into adulthood and there are still thousands who never receive a diagnosis.

Down Syndrome Answers: What does Down syndrome look like?

What are the 4 types of Down syndrome?

There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Trisomy 21 (nondisjunction) accounts for 95% of known cases of Down syndrome.

Do babies with Down syndrome have small heads?

Height and weight — Babies with Down syndrome are usually smaller than other babies, and they have smaller heads. They may also grow more slowly and may never reach the same heights that typical children do.

What is mosaic Down syndrome characteristics?

Physical characteristics include: almond-shaped eyes that tend to slat upward. a neck that is shorter than average. a flattened face, particularly near the bridge of the nose.

Can you have half Down syndrome?

Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types of cells. Some have the usual 46 chromosomes and some have 47. Those cells with 47 chromosomes have an extra chromosome 21. Mosaicism is usually described as a percentage.

Can you have Down syndrome and be smart?

scores for people with Down syndrome vary, with the average cognitive delays being mild to moderate, not severe. In fact, normal intelligence is possible.

What are the facial features of Down syndrome?

Some common characteristics present in people with the disorder include distinctive facial features, such as slanting eyes, small chin, round face, flat nasal bridge, Brushfield spots in the iris, abnormal outer ears, and flattened nose.

How can I tell if my baby has Down syndrome?

An ultrasound and quadruple marker screen (QMS) test can help identify Down syndrome and other defects in the brain and spinal cord. This test is done between 15 and 20 weeks of pregnancy. If any of these tests aren't normal, you'll be considered at high risk for birth defects.

Why do Down syndrome have slanted eyes?

Slanting and a fold of skin (epicanthal fold) are normal in people of Asian descent. Abnormal slanting of the eye may occur with some genetic disorders and syndromes. The most common of these is Down syndrome. People with Down syndrome often also have an epicanthal fold in the inner corner of the eye.

Which physical characteristic is most indicative of an individual with Down syndrome?

Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes.

When do babies with Down syndrome sit up?

For example a typical child may sit up from 5-9 months, but a child born with down syndrome has a span of 8-16 months.

What are 3 interesting facts about Down syndrome?

Is there a Down syndrome spectrum?

Yes! In fact, about 16-18% of people with Down syndrome also have autism spectrum disorder (ASD) (Richards et al., 2015). However, it is important to know that: Like autistic people, people with Down syndrome have a range of skills and vary in achieving developmental milestones.

Do people with Down syndrome always have straight hair?

They often have straight hair that is fine and thin. In general, people with Down syndrome tend to be short in stature with short limbs. They may also have a larger than normal space between the big and second toes and extra-flexible joints.

Why do Down syndrome stick out tongue?

Some babies have decreased muscle tone. Since the tongue is a muscle, and is controlled by other muscles in the mouth, decreased muscle tone can cause the tongue to stick out more than usual. Several conditions may cause decreased muscle tone, such as Down syndrome, DiGeorge syndrome, and cerebral palsy.

Does sandal gap always mean Down syndrome?

Sandal gap deformity

Separation of the great toe has been reported in 45% of children with Down syndrome, but is not a typical finding in other syndromes (10). The deformity may, however, be a normal variant, occurring in many normal fetuses or neonates.

Does a Down syndrome baby look different in an ultrasound?

Certain features detected during a second trimester ultrasound exam are potential markers for Down's syndrome, and they include dilated brain ventricles, absent or small nose bone, increased thickness of the back of the neck, an abnormal artery to the upper extremities, bright spots in the heart, 'bright' bowels, mild ...

Are Down syndrome babies bigger or smaller in the womb?

Abstract. The difference in birth weight between children with Down's syndrome and their siblings was estimated to be in the interval from . 18 to . 37 kg with 90 percent confidence, the Down's syndrome infants having the smaller mean birth weights.

Do Down syndrome babies grow slower in the womb?

Symptoms of Down syndrome can range from mild to severe. Mental and physical developments are usually slower in people with Down syndrome than for those without the condition. Infants born with Down syndrome may be of average size, but grow slowly and remain smaller than other children of the same age.

What are the physical characteristics of a child with Down syndrome?

Short neck, with excess skin at the back of the neck. Flattened facial profile and nose. Small head, ears, and mouth. Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye.

Do Down syndrome have bigger tongues?

People with Down syndrome may have large tongues or they may have an average size tongue and a small upper jaw that makes their tongue too large for their mouth. It is also common for people with Down syndrome to have grooves and fissures on their tongues.