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 | ||
| 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 |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| High anterior hairline |
High frontal hairline
|
0009890 |
| High forehead | 0000348 | |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared 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 | |
|
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 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| 0001250 | ||
| Short philtrum | 0000322 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| 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
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 |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Calvarial skull defect |
Cranial defect
Skull defect
[ more ]
|
0001362 |
| Cleft upper lip |
Harelip
|
0000204 |
| 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 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic atrophy | 0000648 | |
| Preauricular pit |
Pit in front of the ear
|
0004467 |
| Preauricular skin tag | 0000384 | |
| Preaxial hand |
Extra thumb
|
0001177 |
| Prominent glabella |
Prominent area between the eyebrows
Protruding area between the eyebrows
[ more ]
|
0002057 |
| Proptosis |
Eyeballs bulging out
Bulging eye
Protruding eyes
Prominent globes
Prominent eyes
[ more ]
|
0000520 |
|
Drooping upper eyelid
|
0000508 | |
| Rib fusion |
Fused ribs
|
0000902 |
| Rib segmentation abnormalities | 0006655 | |
| Rieger anomaly | 0000558 | |
| Sacral dimple |
Spinal dimple
|
0000960 |
| 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 |
|
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
Claw hand deformities
Claw hands
Claw-hand deformities
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 |
|
Cross-eyed
Squint eyes
Squint
[ 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 |
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 roof of mouth
|
0000175 | |
| Disproportionate tall stature | 0001519 | |
| Hip dysplasia | 0001385 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Megalocornea |
Enlarged cornea
|
0000485 |
| 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 |
| 0002353 | ||
|
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 | |
| 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 |
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.
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.
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 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.
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.
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.
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.
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
