Chromosome 1p36 deletion syndrome

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What facial differences are usually seen in chromosome 1p36 microdeletion syndrome?

Facial differences that can be seen in chromosome 1p36 microdeletion syndrome include:

  • Short and wide head (microbrachycephaly)
  • Large soft spot on the front of a baby's head (anterior fontanel) that closes late
  • Deep-set eyes
  • Straight eyebrows
  • Middle face looks sunken
  • Flat nose
  • Long area between the nose and the mouth (philtrum)
  • Pointed chin
  • Low set ears that are rotated backwards and abnormally shaped
  • Split lip and/or opening in the roof of the mouth (cleft lip and palate)

These findings can vary between affected people. Not everyone has all of these findings. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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How intellectualy disabled are people with chromosome 1p36 microdeletion syndrome?

Can people with chromosome 1p36 microdeletion syndrome talk?

What behavior differences can be seen in people with chromosome 1p36 microdeletion syndrome?

How common are heart differences in chromosome 1p36 microdeletion syndrome, and what heart differences can be seen?

How common are brain abnormalities in chromosome 1p36 microdeletion syndrome, and what brain differences can be seen?

How common are feeding difficulties in babies with chromosome 1p36 microdeletion syndrome?

What eye differences can be seen in chromosome 1p36 microdeletion syndrome?

How common in hearing loss in chromosome 1p36 microdeletion syndrome?

How common are skeletal differences, and what types of skeletal differences are seen in chromosome 1p36 microdeletion syndrome?

What genital differences can be seen in people with chromosome 1p36 microdeletion syndrome?

Is chromosome 1p36 deletion syndrome more common in males or females?

Is everyone with chromosome 1p36 microdeletion syndrome affected the same?

Can people with chromosome 1p36 microdeletion syndrome have children?

What is the prognosis for individuals with chromosome 1p36 microdeletion syndrome?

Is there a cure for chromosome 1p36 microdeletion syndrome?

How intellectualy disabled are people with chromosome 1p36 microdeletion syndrome?

All people with chromosome 1p36 microdeletion syndrome have learning problems (intellectual disability). Most people (90%) have severe learning problems. Some people (10%) have mild or moderate learning problems. Learning problems are a hallmark of this disorder. Some people with this disorder also have seizures. People with seizures that are not controlled may have a harder time learning. People with this disorder will need support services. They will also need special education. Talk to a genetic counselor to learn more about the learning problems seen in this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Can people with chromosome 1p36 microdeletion syndrome talk?

About 75% of people with chromosome 1p36 microdeletion syndrome cannot speak. They may be able to say a few words. Each person with this condition is different. They may be able to learn to use some sign language. It is important that speech therapy services are received as soon as possible. Earlier treatment leads to better outcomes. People with this disorder can have their care coordinated in a genetic services clinic. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

What behavior differences can be seen in people with chromosome 1p36 microdeletion syndrome?

Chromosome 1p36 microdeletion syndrome can cause behavior problems. Everyone with this disorder is different. Each person can have different problems. These problems can include:

  • Poor social skills
  • Shyness
  • Biting their own hands and wrists
  • Temper tantrums
  • Eating too much
  • Sleeping problems

Talk to a genetic counselor to learn more about the behavior problems seen in this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

How common are heart differences in chromosome 1p36 microdeletion syndrome, and what heart differences can be seen?

Heart problems are seen in about half of people with chromosome 1p36 microdeletion syndrome. These problems occur when the heart does not develop the right way. Sometimes the heart does not beat correctly. Some of the heart problems seen in this disorder are:

  • Hole in the upper chambers of the heart (atrial septal defect)
  • Hole in the bottom chambers of the heart (ventricular septal defect)
  • Heart valve defects
  • Opening between the two major blood vessels leading from the heart (Patent ductus arteriosus)
  • Tetralogy of Fallot (combination of four specific heart defects)
  • Narrowing of the aorta
  • Narrowing of the right ventricle (bottom chamber of the heart)
  • Ebstein's anomaly (abnormality in one of the valves in the heart)
  • Heart rhythm problems (cardiomyopathy)

Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003b;72:1200-12. PMID:12687501
  • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10. PMID:18245432
  • http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf
How common are brain abnormalities in chromosome 1p36 microdeletion syndrome, and what brain differences can be seen?

Brain abnormalities are seen in most people (88%) with chromosome 1p36 microdeletion syndrome. These problems occur when the brain does not develop the right way. Brain problems can include:

  • Increase in size in some areas of the brain
  • Wasting away of the brain (atrophy)
  • Lack of development of the part of the brain called the corpus callosum
  • Delayed development of the protective coating on the brain (myelination)
  • Extra ridges and folds on the brain (Polymicrogyria)
  • A disorder in which brain cells are in the wrong location (Periventricular nodular heterotopia)

A neurologist is the kind of doctor that treats brain defects. Referral to a neurologist is important for affected people. A genetics clinic can help refer patients to the types doctors they need to see to treat this disorder. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

How common are feeding difficulties in babies with chromosome 1p36 microdeletion syndrome?

Most (72%) babies with chromosome 1p36 microdeletion syndrome have trouble swallowing. This can happen for different reasons. Some of the causes include:

  • Weak muscles (hypotonia)
  • A split lip (cleft lip)
  • A hole in the roof of the mouth (cleft palate)
  • Poor coordination
  • Vomiting
  • Stomach contents leaking back into throat (gastroesophageal reflux)

Not all babies with the disorder have all of these problems. Symptoms vary. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
What eye differences can be seen in chromosome 1p36 microdeletion syndrome?

Many different eye problems can be seen in chromosome 1p36 microdeletion syndrome. They can include:

  • Strabismus (eyes that don't look in the same direction)
  • Nystagmus (quick, uncontrolled movements of the eyes)
  • Blurry vision (refractive errors)
  • Visual inattention (Patient ignores everything on one side of their visual field).
  • Cataract (cloudy lenses)
  • Optic nerve coloboma (hole in the optic nerve)

Not all babies with the disorder have all of these problems. Symptoms vary. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003b;72:1200-12. PMID:12687501
  • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10. PMID:18245432
  • http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf
How common in hearing loss in chromosome 1p36 microdeletion syndrome?

Hearing loss is seen in 47-82% of people with chromosome 1p36 microdeletion syndrome. Sensorineural is the type of hearing lost that is seen the most. There is damage to the inner ear in this type of hearing loss. Not all babies with the disorder have hearing loss. Symptoms vary. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003b;72:1200-12. PMID:12687501
  • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10. PMID:18245432
  • http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf
How common are skeletal differences, and what types of skeletal differences are seen in chromosome 1p36 microdeletion syndrome?

About 40% of people with chromosome 1p36 microdeletion syndrome have skeletal problems. These problems can include:

  • Delayed bone age (bones are not maturing at the usual rate)
  • Scoliosis (curved spine)
  • Rib abnormalities
  • Asymmetry of the lower limbs (legs are not the same length)

Not all babies with the disorder have all of these problems. Symptoms vary. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10. PMID:18245432
  • http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf
What genital differences can be seen in people with chromosome 1p36 microdeletion syndrome?

Genital differences are seen in some people with chromosome 1p36 microdeletion syndrome. Genitals are the sex organs. Genital differences in males can include:

  • Micropenis (very small penis)
  • Underdevelopment of the scrotum
  • Cryptorchidism (testes are in the abdomen instead of the scrotum)
  • Hypospadias (the opening of the penis is on the underside rather than the tip).

Genital differences in females can include:

  • Small labia minora
  • Overgrown labia majora
  • Small clitoris
  • Underdevelopment of the uterus.

These differences are seen in a small number of affected people. Not all people with the disorder have all of these problems. Symptoms vary. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10. PMID:18245432
  • http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf
Is chromosome 1p36 deletion syndrome more common in males or females?

Chromosome 1p36 deletion syndrome is more common in girls than boys. There are twice as many affected females as males. The reason there are more affected girls is not known. Talk to a genetic counselor to learn more about the frequency of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
Is everyone with chromosome 1p36 microdeletion syndrome affected the same?

Not all people with chromosome 1p36 microdeletion syndrome are affected the same. There are many different problems associated with this disorder. Not everyone has all of the problems. The problems can vary from person to person. Some people have more severe problems than others. It is difficult to predict which health problems a person will have. That is why they need to be monitored for the problems associated with this disorder. Talk to a genetic counselor to learn more about the symptoms of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Can people with chromosome 1p36 microdeletion syndrome have children?

No one with chromosome 1p36 microdeletion syndrome has been reported to have a child. If a person with this disorder could have a child, then their child would have an increased chance to have the same disorder. A genetic counselor can talk about the risks of passing on this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

What is the prognosis for individuals with chromosome 1p36 microdeletion syndrome?

People with chromosome 1p36 microdeletion syndrome are affected differently. Almost all will be dependent on others for most activities their whole lives. They will need help with most day to day tasks. They will need medical care their whole lives. People with this disorder do survive into adulthood. Genetics clinics can help organize healthcare for affected people. They can make recommendations for support services. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Is there a cure for chromosome 1p36 microdeletion syndrome?

There is no cure for chromosome 1p36 microdeletion syndrome. People with this disorder are missing some of their genetic information. It is not possible to replace this information. Treatment is based on which symptoms a patient has. Special learning programs are useful to help with mental delays. Affected people may need to learn some sign language to communicate. They may need physical therapy to help with motor skills. Some people need medications for seizures. People with this disorder can have problems eating. They may need special equipment to help them eat. Medications and surgery may be needed if there are heart problems. Hearing aids may be needed for hearing loss. Other physical problems will need standard treatments if they develop. Symptoms vary for affected people, so not everyone will need the same treatments. A medical geneticist can help to arrange the right treatments. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

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