Chromosome 1p36 deletion syndrome

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Other Names:

1p36 deletion syndrome; Monosomy 1p36 syndrome

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Heart Diseases; Chromosome Disorders; Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases See More

This disease is grouped under:

Chromosome 1p deletion

Summary Summary

1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). Other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a balanced translocation, in which no genetic material is gained or lost. ^[1] There is no cure for this syndrome. Treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems.^[2]

Last updated: 4/18/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Agenesis of corpus callosum		0001274
Brachydactyly	Short fingers or toes	0001156
Camptodactyly of finger	Permanent flexion of the finger	0100490
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
EEG abnormality		0002353
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Global developmental delay		0001263
Horizontal eyebrow	Flat eyebrow Straight eyebrow [ more ]	0011228
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long philtrum		0000343
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Muscular hypotonia	Low or weak muscle tone	0001252
Pointed chin	Pointy chin Witch's chin Small pointed chin [ more ]	0000307
Poor speech		0002465
Short foot	Short feet Small feet [ more ]	0001773
Ventriculomegaly		0002119
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Autism		0000717
Brachycephaly	Short and broad skull	0000248
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Constipation		0002019
Delayed cranial suture closure		0000270
Depressed nasal bridge	Depressed bridge of nose Low nasal root Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge [ more ]	0005280
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Feeding difficulties in infancy		0008872
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
High hypermetropia	Severe farsightedness Severe long-sightedness [ more ]	0008499
Low-set, posteriorly rotated ears		0000368
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Small head circumference Reduced head circumference [ more ]	0000252
Narrow mouth	Small mouth	0000160
Seizure		0001250
Self-injurious behavior	Self-injurious behaviour	0100716
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
5%-29% of people have these symptoms
11 pairs of ribs		0000878
Abnormal blistering of the skin	Blistering, generalized Blisters [ more ]	0008066
Abnormal cardiac septum morphology		0001671
Abnormal heart valve morphology		0001654
Abnormal intestine morphology	Abnormality of the intestine	0002242
Abnormality of female external genitalia	Abnormal female external genitalia	0000055
Abnormality of the anus		0004378
Abnormality of the neck		0000464
Abnormality of the spleen		0001743
Annular pancreas		0001734
Aortic arch aneurysm		0005113
Bifid ribs	Cleft ribs Split ribs [ more ]	0000892
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Cranial nerve paralysis		0006824
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Foot polydactyly	Duplication of bones of the toes	0001829
Frontal bossing		0002007
Generalized hirsutism	Excessive hairiness over body	0002230
Hemiplegia/hemiparesis	Paralysis or weakness of one side of body	0004374
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hip dysplasia		0001385
Hydronephrosis		0000126
Hypogonadism	Decreased activity of gonads	0000135
Hypoplasia of penis	Underdeveloped penis	0008736
Hypospadias		0000047
Hypothyroidism	Underactive thyroid	0000821
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Kyphosis	Hunched back Round back [ more ]	0002808
Lower limb asymmetry	Left and right leg differ in length or width	0100559
Macule	Flat, discolored area of skin	0012733
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Myopathy	Muscle tissue disease	0003198
Neuroblastoma	Cancer of early nerve cells	0003006
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Obesity	Having too much body fat	0001513
Ocular albinism	Absent pigmentation in the eye	0001107
Optic atrophy		0000648
Patent ductus arteriosus		0001643
Polyphagia	Voracious appetite	0002591
Pyloric stenosis		0002021
Renal cyst	Kidney cyst	0000107
Rib fusion	Fused ribs	0000902
Scoliosis		0002650
Sensorineural hearing impairment		0000407
Short stature	Decreased body height Small stature [ more ]	0004322
Spinal canal stenosis	Narrow spinal canal	0003416
Telangiectasia		0001009
Tetralogy of Fallot		0001636
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
1%-4% of people have these symptoms
Aortic root aneurysm	Bulge in wall of root of large artery that carries blood away from heart	0002616
Asymmetry of the ears	Asymmetric ears	0010722
Bicuspid aortic valve	Aortic valve has two leaflets rather than three	0001647
Ebstein anomaly of the tricuspid valve		0010316
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Short 5th finger	Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ]	0009237
Thickened helices		0000391
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Wide anterior fontanel	Wider-than-typical soft spot of skull	0000260
Percent of people who have these symptoms is not available through HPO
Abnormal lung lobation		0002101
Abnormality of the hairline		0009553
Abnormality of the kidney	Abnormal kidney	0000077
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Bifid uvula		0000193
Blepharophimosis	Narrow opening between the eyelids	0000581
Cleft upper lip	Harelip	0000204
Congenital hypothyroidism	Underactive thyroid gland from birth	0000851
Cranial nerve VI palsy		0006897
Delayed closure of the anterior fontanelle	Later than typical closing of soft spot of skull	0001476
Delayed CNS myelination		0002188
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Dilation of lateral ventricles		0006956
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hypsarrhythmia		0002521
Impaired social interactions	Impaired social interaction Poor social interactions [ more ]	0000735
Infantile spasms		0012469
Leukoencephalopathy		0002352
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Malar flattening	Zygomatic flattening	0000272
Metatarsus adductus	Front half of foot turns inward	0001840
Noncompaction cardiomyopathy		0012817
Oppositional defiant disorder		0010865
Optic disc pallor		0000543
Optic nerve coloboma		0000588
Pachygyria	Fewer and broader ridges in brain	0001302
Patent foramen ovale		0001655
Pes cavus	High-arched foot	0001761
Polymicrogyria	More grooves in brain	0002126
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Self-mutilation	Deliberate self-harm Self mutilation [ more ]	0000742
Sporadic	No previous family history	0003745
Submucous cleft hard palate		0000176
Synophrys	Monobrow Unibrow [ more ]	0000664
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582

Showing of 143 |

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Last updated: 2/1/2021

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Prognosis Prognosis

The severity and nature of signs and symptoms of chromosome 1p36 deletion syndrome varies between affected individuals, so it is difficult to predict the long-term outlook for an individual child.^[3]^[4] Generally, affected individuals do survive well into adult life.^[3] There has been one study to date in which the course of 1p36 deletion syndrome was investigated, with a follow-up spanning 18 years. Although this study does not specifically address life expectancy, it does contain substantial information regarding the natural history of the condition. To view a free, full-text version of this study article, click here.

Last updated: 1/18/2013

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Rett syndrome, Angelman syndrome and Prader-Willi syndrome (see these terms). Visit the Orphanet disease page for more information.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

1p36 Deletion Support & Awareness
906 NE Greenwood Ave.
Bend, OR 97701
E-mail: info@1p36dsa.org
Website: http://www.1p36dsa.org
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Chromosome 1p36 deletion syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about chromosome 1p36 deletion syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1p36 deletion syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What is the expected life span of a person with this chromosome deletion? I am very concerned about my grandson who has this deletion and lately seems to be sick a lot. He has always had a lot of sickness, but now it seems to be more often. He is 20 years old. See answer

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