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Wolf-Hirschhorn syndrome


Información en español Title


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Other Names:
WHS; Wolf syndrome; Chromosome 4p syndrome; WHS; Wolf syndrome; Chromosome 4p syndrome; Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation; 4p syndrome; Distal deletion 4p; 4p- syndrome; Distal monosomy 4p; Telomeric deletion 4p; Wittwer syndrome; Pitt-Rogers-Danks syndrome See More
Categories:
Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Lung Diseases; Nervous System Diseases See More

Summary Summary


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Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. WHS is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 (written as 4p-). The size of the deletion varies among people with WHS, and studies suggest larger deletions tend to result in more severe features. Most cases of WHS are not inherited, but some cases are inherited from a parent who does not have WHS.[1][2] Treatment depends on the symptoms.
Last updated: 4/28/2017

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 117 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ataxia 0001251
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Decreased muscle mass 0003199
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Frontal bossing 0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
High anterior hairline
High frontal hairline
0009890
High forehead 0000348
Highly arched eyebrow
Arched eyebrows
Thick, flared eyebrows
High-arched eyebrows
High, rounded eyebrows
Broad, arched eyebrows
[ more ]
0002553
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypodontia
Failure of development of between one and six teeth
0000668
Hypospadias 0000047
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
0010864
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Low posterior hairline
Low hairline at back of neck
0002162
Low-set, posteriorly rotated ears 0000368
Microcephaly
Abnormally small skull
Decreased size of skull
Decreased circumference of cranium
Small head circumference
Reduced head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small lower jaw
Small jaw
[ more ]
0000347
Microtia
Small ears
Underdeveloped ears
[ more ]
0008551
Muscular hypotonia
Low or weak muscle tone
0001252
Seizure 0001250
Short philtrum 0000322
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
Wide nasal bridge
Broad nasal root
Increased breadth of bridge of nose
Broadened nasal bridge
Nasal bridge broad
Increased width of nasal bridge
Increased width of bridge of nose
Increased breadth of nasal bridge
Broad nasal bridge
Widened nasal bridge
Wide bridge of nose
[ more ]
0000431
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies 0003312
Abnormal heart valve morphology 0001654
Abnormality of the kidney
Abnormal kidney
0000077
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
0000377
Aplasia cutis congenita of scalp 0007385
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
0006703
Arachnodactyly
Long slender fingers
Spider fingers
[ more ]
0001166
Atrial septal defect
Hole in heart wall separating two upper heart chambers
An opening in the wall separating the top two chambers of the heart
[ more ]
0001631
Calvarial skull defect
Cranial defect
Skull defect
[ more ]
0001362
Cleft upper lip
Harelip
0000204
Congenital diaphragmatic hernia 0000776
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
0000444
Craniofacial asymmetry 0004484
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Hemangioma
Strawberry mark
0001028
Hypoplastic pubic rami 0008830
Iris coloboma
Cat eye
0000612
Kyphosis
Hunched back
Round back
[ more ]
0002808
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy 0000648
Preauricular pit
Pit in front of the ear
0004467
Preauricular skin tag 0000384
Preaxial hand polydactyly
Extra thumb
0001177
Prominent glabella
Prominent area between the eyebrows
Protruding area between the eyebrows
[ more ]
0002057
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
Ptosis
Drooping upper eyelid
0000508
Rib fusion
Fused ribs
0000902
Rib segmentation abnormalities 0006655
Rieger anomaly 0000558
Sacral dimple
Spinal dimple
0000960
Scoliosis 0002650
Severe postnatal growth retardation
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
0008850
Short hallux
Short big toe
0010109
Short stature
Decreased body height
Small stature
[ more ]
0004322
Short thumb
Short thumbs
Small thumbs
[ more ]
0009778
Short upper lip
Decreased height of upper lip
Decreased vertical length of upper lip
Shortening of upper lip
[ more ]
0000188
Split hand
Claw hand deformities
Claw hand
Claw-hand deformities
Claw hands
Split-hand
[ more ]
0001171
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
0000733
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Tethered cord 0002144
5%-29% of people have these symptoms
Abdominal situs inversus 0003363
Abnormality of movement
Movement disorder
Unusual movement
[ more ]
0100022
Abnormality of the gallbladder 0005264
Agenesis of corpus callosum 0001274
Aplasia of the uterus
Absent uterus
uterus absent
[ more ]
0000151
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
0007360
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples
[ more ]
0006709
Biliary tract abnormality 0001080
Chronic otitis media
Chronic infections of the middle ear
0000389
Cleft palate
Cleft roof of mouth
0000175
Disproportionate tall stature 0001519
Hip dysplasia 0001385
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Megalocornea
Enlarged cornea
0000485
Osteoporosis 0000939
Preaxial foot polydactyly 0001841
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Retinopathy
Noninflammatory retina disease
0000488
Sclerocornea
Hardening of skin and connective tissue
0000647
Single transverse palmar crease 0000954
Webbed neck
Neck webbing
0000465
1%-4% of people have these symptoms
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ]
0000405
EEG abnormality 0002353
Immunodeficiency
Decreased immune function
0002721
Sensorineural hearing impairment 0000407
Percent of people who have these symptoms is not available through HPO
Abnormal sternal ossification
Abnormal maturation of breastbone
0011863
Absent septum pellucidum 0001331
Accessory spleen 0001747
Autosomal dominant inheritance 0000006
Cavum septum pellucidum 0002389
Ectopia pupillae
Displaced pupil
0009918
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ]
0002827
Hyperconvex fingernails 0001812
Malrotation of small bowel 0004794
Metatarsus adductus
Front half of foot turns inward
0001840
Periventricular cysts 0007109
Precocious puberty
Early onset of puberty
Early puberty
[ more ]
0000826
Pseudoepiphyses of the metacarpals 0009193
Radioulnar synostosis
Fused forearm bones
0002974
Sporadic
No previous family history
0003745
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Ventriculomegaly 0002119
Vertebral fusion
Spinal fusion
0002948
Showing of 117 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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Many cases of Wolf-Hirschhorn syndrome (WHS) (about 50-60%) are not inherited from a parent and are caused by a new (de novo) deletion of a region of chromosome 4 (called 4p16) that occurs for the first time in the person with WHS. In about 40-45% of cases, the person with WHS has an unbalanced translocation with both a deletion on chromosome 4 and an extra piece (trisomy) of part of another chromosome. In these cases, the unbalanced translocation may be de novo, or inherited from a parent who carries a balanced rearrangement (when parts of chromosomes are rearranged but there is no extra or missing genetic material).[2]

Risks to family members and their children depend on whether the person with WHS has the syndrome due to a de novo deletion or an unbalanced translocation.[2]
Last updated: 4/28/2017

Diagnosis Diagnosis


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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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Prognosis Prognosis


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The long-term outlook (prognosis) for people with Wolf-Hirschhorn syndrome (WHS) depends on the specific features present and the severity of those features. The average life expectancy is unknown. Muscle weakness may increase the risk of having chest infections and ultimately may reduce the life expectancy. Many people, in the absence of severe heart defects, chest infections, and uncontrollable seizures, survive into adulthood.[3][4]
Last updated: 4/28/2017

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 Genetics Home Reference.

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 many syndromes displaying growth failure, intellectual disability and/or facial dysmorphism such as Seckel, CHARGE, Smith-Lemli-Opitz, Opitz G/BBB, Williams, Rett, Angelman and Smith-Magenis syndromes (see these terms).
Visit the Orphanet disease page for more information.

Research Research


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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. 

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

  • 4p- Support Group
    131 Green Cook Road
    Sunbury, OH 43074
    E-mail: membership@4p-supportgroup.org
    Website: http://www.4p-supportgroup.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/
  • Wolf-Hirschhorn Syndrome Trust (UK)
    Telephone: 0845-603-5338
    E-mail: enquiries@whs4pminus.co.uk
    Website: http://www.whs4pminus.co.uk/
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

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

  • The 4p- Support Group offers information on Wolf-Hirschhorn syndrome.
  • Genetics Home Reference (GHR) contains information on Wolf-Hirschhorn 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.

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.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Wolf-Hirschhorn syndrome. Click on the link to view a sample search on this topic.

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

  • My step-daughter carries Wolf-Hirschhorn syndrome. Should my son be tested? He is 18. He is a half brother. See answer

  • My 37-year-old daughter has Wolf-Hirschhorn syndrome. As she has gotten older, her behaviors have gotten worse, which is stressful and frustrating. Her behaviors include alternating periods of aggression, excitement, depression, apathy, antisocial behavior, and anger. She also has sudden mood swings accompanied by bizarre behaviors such as pulling people's hair and clothes and swiping things of a table. Can you tell me if these are recognized symptoms of this syndrome? If so, can one do anything about them? See answer

  • What is the life expectancy for someone with Wolf-Hirschhorn syndrome? See answer

  • My sister has two children that have been diagnosed with Wolf-Hirschhorn Syndrome. How common is it for a person to have more than one child with the syndrome? I am interested in getting a genetic test to see if I am a carrier. Will the test be covered by my insurance?  How much do they generally cost? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Wolf-Hirschhorn syndrome. Genetics Home Reference Website. April 2012; http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome.
  2. Battaglia A, Carey JC, South ST & Wright TJ. Wolf-Hirschhorn Syndrome. GeneReviews. 2015; http://www.ncbi.nlm.nih.gov/books/NBK1183/.
  3. General 4p- Info. 4p- Support Group. 2015; http://4p-supportgroup.org/general-info/.
  4. What is WHS?. Wolf Hirschhorn Syndrome Trust. http://www.whs4pminus.co.uk/what-is-this/.
Do you know of a review article? We want to hear from you.
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rare disease research!
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