Rare Nephrology News

Disease Profile

3q29 microdeletion 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

Infancy

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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.

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)

3qter deletion; Del(3)(q29); Monosomy 3qter;

Categories

Congenital and Genetic Diseases

Summary

3q29 microdeletion syndrome is a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lip or cleft palate, and a few have been reported to have heart defects. As children with this condition get older, they may develop behavioral difficulties such as autism, and they may have symptoms of mental illness.[1] The severity of symptoms can vary, and some people with 3q29 microdeletion syndrome may have very mild symptoms or may not even know they are affected.[2] 

3q29 microdeletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 3, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 3q29 microdeletion syndrome are de novo, which means the deletion was not passed down from either parent.[3] Some cases may be inherited from a parent who is only mildly affected by the condition.

Diagnosis of 3q29 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing.[4] Treatment is based on signs and symptoms of each person and may include surgeries to repair any physical abnormalities, speech therapy, behavior therapy and special education.

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
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
30%-79% of people have these symptoms
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
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrotia
Large ears
0000400
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
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
Short philtrum
0000322
5%-29% of people have these symptoms
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Anxiety
Excessive, persistent worry and fear
0000739
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Autism
0000717
Bipolar affective disorder
Bipolar disorder
0007302
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Depressivity
Depression
0000716
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Horseshoe kidney
Horseshoe kidneys
0000085
Hypospadias
0000047
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Microphthalmia
Abnormally small eyeball
0000568
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Nasal speech
Nasal voice
0001611
Oral cleft
Cleft of the mouth
0000202
Patent ductus arteriosus
0001643
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Psychosis
0000709
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Six lumbar vertebrae
0008416
Subvalvular aortic stenosis
Narrowing of blood vessel below aortic heart valve
0001682
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Gait ataxia
Inability to coordinate movements when walking
0002066
Hyperactivity
More active than typical
0000752
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Sporadic
No previous family history
0003745
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
Thin upper lip vermilion
Thin upper lip
0000219
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Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.

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

  • 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 3q29 microdeletion 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.
  • 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 3q29 microdeletion syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

References

  1. Quintero-Rivera F, Sharifi-Hannauer P, and Martinez-Agosto JA. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. American Journal of Medical Genetics. Part A.. October 2010; 152A(10):2459-2467. https://www.ncbi.nlm.nih.gov/pubmed/20830797.
  2. Dr. Lucy Raymond and Professor Maj Hultén. 3q29 deletions and microdeletions. Unique; 2013; https://www.rarechromo.org/information/Chromosome%20%203/3q29%20deletions%20and%20microdeletions%20FTNW.pdf.
  3. Carlos A Bacino, MD, FACMG, Helen V Firth, DM, FRCP, DCH, Elizabeth TePas, MD, MS. Microdeletion syndromes (chromosomes 1 to 11). UpToDate; July 15, 2015; https://www.uptodate.com/contents/microdeletion-syndromes-chromosomes-1-to-11.
  4. Dr. Nicole Morichon-Delvallez. 3q29 microdeletion syndrome. Orphanet; January 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65286.

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