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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


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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


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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.

Showing of 143 |
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 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Prognosis Prognosis


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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


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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


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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


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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


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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


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


Have a question? Contact a GARD Information Specialist.

References References


  1. 1p36 deletion syndrome. Genetics Home Reference. January, 2014; http://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome.
  2. Battaglia A. 1p36 Deletion Syndrome. GeneReviews. June 6, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1191/.
  3. Agatino Battaglia. 1p36 deletion syndrome. Orphanet. October 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1606. Accessed 1/18/2013.
  4. 1p36 deletion syndrome. Unique. 2011; http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNW.pdf. Accessed 1/18/2013.
Do you know of a review article? We want to hear from you.
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