Distal 10q deletion syndrome

Other Names: 

chromosome 10q26 deletion syndrome; distal deletion 10q; distal monosomy 10q; distal monosomy type 10q; monosomy 10qter; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome

10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26. The signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability, growth problems, and developmental delay. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Some have limited speech throughout life. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction. A range of facial features is seen in people with 10q26 deletion syndrome, but not all affected individuals have these features. Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck). Less common signs and symptoms can occur in 10q26 deletion syndrome. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). Slow growth before and after birth can also occur in affected individuals. Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems.

About Distal 10q deletion syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Symptoms:May start to appear during Pregnancy and as a Newborn.
• Cause:This disease is caused by changes to the number or structure of a person’s chromosomes.
• Organizations:Contact a GARD Information Specialist to help search for patient organizations dedicated to this rare disease.
• Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)

Resource(s) for Medical Professionals and Scientists on This Disease:

• MONDO provides GARD with information for this disease.
• Orphanet provides GARD with information for this disease.

About Distal 10q deletion syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Symptoms:May start to appear during Pregnancy and as a Newborn.
• Cause:This disease is caused by changes to the number or structure of a person’s chromosomes.
• Organizations:Contact a GARD Information Specialist to help search for patient organizations dedicated to this rare disease.
• Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)

Genetic Mutations

Changes in your genes (also called variants) cause Distal 10q deletion syndrome.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Distal 10q deletion syndrome Begin?

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.