Chromosome 17p13.1 deletion syndrome

Title

Other Names:

17p13.1 deletion syndrome; Distal 17p13.1 microdeletion syndrome; Distal Del(17)(p13.1)

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 319171

Definition

Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.

Visit the Orphanet disease page for more resources.

Last updated: 5/1/2018

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
30%-79% of people have these symptoms
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Moderate global developmental delay		0011343
Motor delay		0001270
Overbite		0011094
Postural instability	Balance impairment	0002172
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
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Triangular face	Face with broad temples and narrow chin Triangular facial shape [ more ]	0000325
5%-29% of people have these symptoms
Abnormal hand morphology	Abnormal shape of hand	0005922
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
EEG with spike-wave complexes		0010850
Flat occiput		0005469
Generalized joint laxity	Hypermobility of all joints	0002761
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Limitation of knee mobility	Limited knee movement	0010501
Limited elbow movement	Decreased elbow mobility Limited elbow mobility Restricted elbow motion [ more ]	0002996
Narrow forehead	Decreased width of the forehead	0000341
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Unilateral polymicrogyria		0006927
Webbed neck	Neck webbing	0000465
Percent of people who have these symptoms is not available through HPO
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Autosomal dominant inheritance		0000006
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Contiguous gene syndrome		0001466
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Elbow flexion contracture	Contractures of elbows Elbow contracture Elbow contractures [ more ]	0002987
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
High forehead		0000348
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hyperactive deep tendon reflexes		0006801
Inverted nipples		0003186
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Knee flexion contracture		0006380
Long hallux	Long big toe	0001847
Proximal placement of thumb	Attachment of thumb close to wrist	0009623
Short chin	Decreased height of chin Short lower third of face [ more ]	0000331
Short foot	Short feet Small feet [ more ]	0001773
Short neck	Decreased length of neck	0000470
Short palm		0004279
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486

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

Last updated: 7/1/2020

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

Diagnosis 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

Orphanet lists international laboratories offering diagnostic testing for this condition.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

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.

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 17p13.1 deletion syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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