Chromosome 3p- syndrome

Title

Other Names:

Del(3p) syndrome; Chromosome 3, monosomy 3p25; Deletion 3p25; Del(3p) syndrome; Chromosome 3, monosomy 3p25; Deletion 3p25; Chromosome 3pter-p25 Deletion Syndrome; Telomeric monosomy 3p; Distal 3p deletion; 3p- syndrome; Distal monosomy 3p; Monosomy 3pter See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Chromosome 3p deletion

Summary Summary

Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.^[1]^[2]^[3]

Last updated: 5/10/2015

Symptoms Symptoms

The signs and symptoms of chromosome 3p- syndrome and the severity of the condition depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected.

Common symptoms shared by many people with this condition include:^[1]^[2]

Growth problems both before and after birth
Feeding difficulties
Developmental delay
Poor muscle tone (hypotonia)
Intellectual disability
Ptosis
Distinctive facial features
Microcephaly and/or unusual head shape
Autism spectrum disorder

Other features that may be seen include cleft palate; extra fingers and/or toes; gastrointestinal abnormalities; seizures; hearing impairment; kidney problems; and/or congenital heart defects.^[1]^[2]

Last updated: 5/10/2015

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
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Long philtrum		0000343
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Ptosis	Drooping upper eyelid	0000508
Short stature	Decreased body height Small stature [ more ]	0004322
Telecanthus	Corners of eye widely separated	0000506
30%-79% of people have these symptoms
Atrioventricular canal defect		0006695
Brachycephaly	Short and broad skull	0000248
Cleft palate	Cleft roof of mouth	0000175
Cryptorchidism	Undescended testis Undescended testes [ more ]	0000028
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Hearing impairment	Deafness Hearing defect [ more ]	0000365
High palate	Elevated palate Increased palatal height [ more ]	0000218
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Low-set, posteriorly rotated ears		0000368
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Muscular hypotonia	Low or weak muscle tone	0001252
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
5%-29% of people have these symptoms
Abnormal renal morphology	Abnormally shaped kidney Kidney malformation Kidney structure issue Structural kidney abnormalities [ more ]	0012210
Abnormal vestibulo-ocular reflex		0007670
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Blepharophimosis	Narrow opening between the eyelids	0000581
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Inguinal hernia		0000023
Macular hypoplasia		0001104
Preauricular pit	Pit in front of the ear	0004467
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Sacral dimple	Spinal dimple	0000960
Seizures	Seizure	0001250
Short neck	Decreased length of neck	0000470
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Triangular face	Face with broad temples and narrow chin Triangular facial shape [ more ]	0000325
Umbilical hernia		0001537
Ventriculomegaly		0002119
Percent of people who have these symptoms is not available through HPO
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Autosomal dominant inheritance		0000006
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Flat occiput		0005469
Global developmental delay		0001263
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Low hanging columella		0009765
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Periorbital fullness	Puffiness around eye	0000629
Postaxial polydactyly		0100259
Postnatal growth retardation	Growth delay as children	0008897
Prominent metopic ridge		0005487
Psychomotor retardation		0025356
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Synophrys	Monobrow Unibrow [ more ]	0000664
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Trigonocephaly	Triangular skull shape Wedge shaped skull [ more ]	0000243
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause Cause

In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.^[2]

Last updated: 5/10/2015

Inheritance Inheritance

In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child.

In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome.^[4]

People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.

Last updated: 5/10/2015

Diagnosis Diagnosis

There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include:^[5]^[2]

Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions.
FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p.
Array CGH - a technology that detects deletions that are too small to be seen on karyotype.

Last updated: 5/10/2015

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, children with delayed motor milestones (i.e. walking) and/or muscle problems may be referred for physical or occupational therapy. Severe feeding difficulties may be treated temporarily with a nasogastric tube or a gastrostomy tube to ensure that a baby or child gets enough nutrients. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present.^[2]^[3]

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

Last updated: 5/10/2015

Prognosis Prognosis

The long-term outlook (prognosis) for people with chromosome 3p- syndrome varies from person to person. The severity of the condition and the associated signs and symptoms largely depend on the size and location of the deletion and the genes involved.^[2]

Last updated: 5/10/2015

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

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 3p- syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 3p- syndrome.

In-Depth Information

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 3p- syndrome. Click on the link to view a sample search on this topic.

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