The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Very frequent (present in 80%-99% of cases) |
|
| Decreased fetal movement | Very frequent (present in 80%-99% of cases) |
| Decreased muscle mass | Very frequent (present in 80%-99% of cases) |
| Dolichocephaly | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Downturned corners of mouth | Very frequent (present in 80%-99% of cases) |
| Epicanthus | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Very frequent (present in 80%-99% of cases) |
| Generalized |
Very frequent (present in 80%-99% of cases) |
| High anterior hairline | Very frequent (present in 80%-99% of cases) |
| High forehead | Very frequent (present in 80%-99% of cases) |
| Highly arched eyebrow | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Hypodontia | Very frequent (present in 80%-99% of cases) |
| Hypospadias | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Intrauterine growth retardation | Very frequent (present in 80%-99% of cases) |
| Low posterior hairline | Very frequent (present in 80%-99% of cases) |
| Low-set, posteriorly rotated ears | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Microtia | Very frequent (present in 80%-99% of cases) |
| Muscular hypotonia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Short philtrum | Very frequent (present in 80%-99% of cases) |
| Small for gestational age | Very frequent (present in 80%-99% of cases) |
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
| Abnormal form of the vertebral bodies | Frequent (present in 30%-79% of cases) |
| Abnormality of the heart valves | Frequent (present in 30%-79% of cases) |
| Abnormality of the kidney | Frequent (present in 30%-79% of cases) |
| Abnormality of the pinna | Frequent (present in 30%-79% of cases) |
| Aplasia cutis congenita of scalp | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the lungs | Frequent (present in 30%-79% of cases) |
| Arachnodactyly | Frequent (present in 30%-79% of cases) |
| Atrial septal defect | Frequent (present in 30%-79% of cases) |
| Calvarial skull defect | Frequent (present in 30%-79% of cases) |
| Cleft upper lip | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Convex nasal ridge | Frequent (present in 30%-79% of cases) |
| Craniofacial asymmetry | Frequent (present in 30%-79% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Delayed skeletal maturation | Frequent (present in 30%-79% of cases) |
| Hearing impairment | Frequent (present in 30%-79% of cases) |
| Hemangioma | Frequent (present in 30%-79% of cases) |
| Hypoplastic pubic rami | Frequent (present in 30%-79% of cases) |
| Iris coloboma | Frequent (present in 30%-79% of cases) |
| Kyphosis | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Optic atrophy | Frequent (present in 30%-79% of cases) |
| Preauricular pit | Frequent (present in 30%-79% of cases) |
| Preauricular skin tag | Frequent (present in 30%-79% of cases) |
| Prominent glabella | Frequent (present in 30%-79% of cases) |
| Proptosis | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Rib fusion | Frequent (present in 30%-79% of cases) |
| Rib segmentation abnormalities | Frequent (present in 30%-79% of cases) |
| Rieger anomaly | Frequent (present in 30%-79% of cases) |
| Sacral dimple | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Severe postnatal growth retardation | Frequent (present in 30%-79% of cases) |
| Short hallux | Frequent (present in 30%-79% of cases) |
| Short thumb | Frequent (present in 30%-79% of cases) |
| Short upper lip | Frequent (present in 30%-79% of cases) |
| Split hand | Frequent (present in 30%-79% of cases) |
| Stenosis of the external auditory canal | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Talipes equinovarus | Frequent (present in 30%-79% of cases) |
| Tethered cord | Frequent (present in 30%-79% of cases) |
| Abdominal situs inversus | Occasional (present in 5%-29% of cases) |
| Abnormality of movement | Occasional (present in 5%-29% of cases) |
| Abnormality of the gallbladder | Occasional (present in 5%-29% of cases) |
| Agenesis of |
Occasional (present in 5%-29% of cases) |
| Aplasia of the uterus | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the cerebellum | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the nipples | Occasional (present in 5%-29% of cases) |
| Biliary tract abnormality | Occasional (present in 5%-29% of cases) |
| Chronic otitis media | Occasional (present in 5%-29% of cases) |
| Disproportionate tall stature | Occasional (present in 5%-29% of cases) |
| Hip dysplasia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Megalocornea | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Preaxial foot |
Occasional (present in 5%-29% of cases) |
| Recurrent respiratory infections | Occasional (present in 5%-29% of cases) |
| Retinopathy | Occasional (present in 5%-29% of cases) |
| Sclerocornea | Occasional (present in 5%-29% of cases) |
| Single transverse palmar crease | Occasional (present in 5%-29% of cases) |
| Webbed neck | Occasional (present in 5%-29% of cases) |
| Conductive hearing impairment | Very rare (present in 1%-4% of cases) |
| Very rare (present in 1%-4% of cases) |
|
| Very rare (present in 1%-4% of cases) |
|
| Sensorineural hearing impairment | Very rare (present in 1%-4% of cases) |
| Abnormal sternal ossification | - |
| Absent septum pellucidum | - |
| Accessory spleen | - |
| - | |
| Cavum septum pellucidum | - |
| Ectopia pupillae | - |
| Gastroesophageal reflux | - |
| Hip dislocation | - |
| Hyperconvex fingernails | - |
| Malrotation of small bowel | - |
| Metatarsus adductus | - |
| Periventricular cysts | - |
| Precocious puberty | - |
| Pseudoepiphyses of the metacarpals | - |
| Radioulnar synostosis | - |
| Sporadic | - |
| Ventricular septal defect | - |
| Ventriculomegaly | - |
| Vertebral fusion | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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
