Rare Neurology News

Disease Profile

Chromosome 1p36 deletion syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q93.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

1p36 deletion syndrome; Monosomy 1p36 syndrome

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Heart Diseases;

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]

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.

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

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.

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.

      References

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

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