Trisomy 10q Syndrome

Is Down Syndrome being misdiagnosed? It may be the most common genetic disorder, however; there is another genetic disorder known as Distal Trisomy 10q that may be getting ignored.

The boy on the left has Distal Trisomy 10q while the boy on the right has Down Syndrome. As you can see, both disorders express similar facial characteristics, making them difficult to tell apart.

Typical facial features of Distal Trisomy 10q include:

• Narrow eye openings
• Up-slanting eyes
• Arched eyebrows
• Arched palate (cleft)
• Flat nose bridge
• Bow shaped mouth
• Small, low set ears
• Short neck
• Sloping shoulders

Typical symptoms associated with this disorder include:

• Dysmorphic craniofacial features
• Mental retardation (greatly varying)
• Growth retardation
• Psychomotor retardation (fine motor, speech)
• Hypotonia (weak muscles)
• Heart & Kidney Defects
• Kyphoscoliosis (humped back / scoliosis)
• Camptodactyly (flexed / crossed fingers)
• Wide gap between 1st & 2nd toes

Distal Trisomy 10q is an extremely rare genetic disorder, with an occurrence of only 1 in every 6,000,000 children born with it each year. In some cases this disorder may be diagnosed prenatally, through specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling. However, more often, it is diagnosed through other means, postnatally, such as a thorough clinical evaluation, identification of characteristic physical findings, chromosomal studies, and or specialized imaging studies. 

In all, Distal Trisomy 10q is an extremely rare genetic disorder that is primarily diagnosed based on physical features. With such a similar appearance, could it be that children are being mistakenly diagnosed as Down Syndrome? Or is this disorder truly as rare as the numbers suggest?

For more information, visit the following links:
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1103/printFullReport
http://children.webmd.com/chromosome-10-distal-trisomy-10q
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1103/viewAbstract
http://trisomydisorders.wordpress.com/2008/10/30/distal-trisomy-10q/

OR message me, and I will email you the relevant research articles I have found.