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 | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormally low-pitched voice | 0010300 | |
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Deep-set nails | 0001814 | |
| Global |
0001263 | |
| Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Long philtrum | 0000343 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Macrotia |
Large ears
|
0000400 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Tall stature |
Increased body height
|
0000098 |
| Thin nail |
Thin nails
|
0001816 |
| 30%-79% of people have these symptoms | ||
| Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Deep philtrum | 0002002 | |
| Feeding difficulties in infancy | 0008872 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Inguinal hernia | 0000023 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Large hands |
large hand
|
0001176 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| 5%-29% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Finger |
0006101 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Pes cavus |
High-arched foot
|
0001761 |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
| 0002650 | ||
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Percent of people who have these symptoms is not available through HPO | ||
| Absent septum pellucidum | 0001331 | |
| 0000006 | ||
| Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
| Calcaneovalgus deformity | 0001848 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Coxa valga | 0002673 | |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| 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 |
| 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 |
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Dilation of lateral ventricles | 0006956 | |
| Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
|
0010751 |
|
Difficulty articulating speech
|
0001260 | |
| Dysharmonic bone age | 0200000 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Flared femoral metaphysis | 0002834 | |
| Flared humeral metaphysis |
Flared wide portion of long bone of upper arm
|
0003911 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hydrocele |
0000034 | |
| Hypertonia | 0001276 | |
| Hypoplastic iliac wing | 0002866 | |
| Inverted nipples | 0003186 | |
| Joint |
0009473 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Limited knee extension | 0003066 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
| Prominent fingertip pads |
Prominent finger pads
|
0001212 |
| Radial deviation of finger | 0009466 | |
| 0001250 | ||
| Short fourth metatarsal |
Short 4th long bone of foot
|
0004689 |
| Short ribs | 0000773 | |
| Slurred speech | 0001350 | |
| Sparse hair | 0008070 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Umbilical hernia | 0001537 | |
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
|
|---|
|
The main differential diagnosis is Sotos syndrome (see this term) which has considerable overlap with WVS. Other disorders to consider include Beckwith-Wiedemann, Simpson-Golabi-Behmel, Malan overgrowth, tall stature-intellectual disability-facial dysmorphism and Marfan 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.
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.
