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) |
| Cognitive impairment | 90% |
| Decreased muscle mass | 90% |
| Dolichocephaly | 90% |
| Downturned corners of mouth | 90% |
| EEG abnormality | 90% |
| Epicanthus | 90% |
| Frontal bossing | 90% |
| Generalized hypotonia | 90% |
| High anterior hairline | 90% |
| High forehead | 90% |
| Highly arched eyebrow | 90% |
| Hypertelorism | 90% |
| Incoordination | 90% |
| Intrauterine growth retardation | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Microcephaly | 90% |
| Seizures | 90% |
| Short philtrum | 90% |
| Small for gestational age | 90% |
| Failure to thrive | 75% |
| Ptosis | 75% |
| Severe postnatal growth retardation | 75% |
| Short stature | 75% |
| Immunodeficiency | 69% |
| Abnormal form of the vertebral bodies | 50% |
| Abnormality of the heart valves | 50% |
| Abnormality of the kidney | 50% |
| Abnormality of the pinna | 50% |
| Aplasia/Hypoplasia of the lungs | 50% |
| Arachnodactyly | 50% |
| Atria septal defect | 50% |
| Congenital diaphragmatic hernia | 50% |
| Convex nasal ridge | 50% |
| Craniofacial asymmetry | 50% |
| Cryptorchidism | 50% |
| Delayed skeletal maturation | 50% |
| Hypodontia | 50% |
| Hypospadias | 50% |
| Iris coloboma | 50% |
| Kyphosis | 50% |
| Nystagmus | 50% |
| Optic atrophy | 50% |
| Preauricular pit | 50% |
| Preauricular skin tag | 50% |
| Preaxial hand polydactyly | 50% |
| Prominent glabella | 50% |
| Rieger anomaly | 50% |
| Sacral dimple | 50% |
| Scoliosis | 50% |
| Short upper lip | 50% |
| Skull defect | 50% |
| Stenosis of the external auditory canal | 50% |
| Strabismus | 50% |
| Wide nasal bridge | 50% |
| Conductive hearing impairment | 40% |
| Hemangioma | 33% |
| Proptosis | 33% |
| Rib fusion | 33% |
| Rib segmentation abnormalities | 33% |
| Stereotypic behavior | 33% |
| Talipes equinovarus | 33% |
| Sensorineural hearing impairment | 15% |
| Abdominal situs inversus | 7.5% |
| Abnormality of movement | 7.5% |
| Abnormality of the gallbladder | 7.5% |
| Agenesis of corpus callosum | 7.5% |
| Aplasia cutis congenita of scalp | 7.5% |
| Aplasia/Hypoplasia of the cerebellum | 7.5% |
| Aplasia/Hypoplasia of the nipples | 7.5% |
| Disproportionate tall stature | 7.5% |
| Hip dysplasia | 7.5% |
| Megalocornea | 7.5% |
| Otitis media | 7.5% |
| Preaxial foot polydactyly | 7.5% |
| Recurrent respiratory infections | 7.5% |
| Reduced bone mineral density | 7.5% |
| Retinopathy | 7.5% |
| Sclerocornea | 7.5% |
| Short hallux | 7.5% |
| Short thumb | 7.5% |
| Split hand | 7.5% |
| Aplasia of the uterus | 5% |
| Biliary tract abnormality | 5% |
| Hydrocephalus | 5% |
| Single transverse palmar crease | 5% |
| Tethered cord | 5% |
| Webbed neck | 5% |
| Abnormal sternal ossification | - |
| Absent septum pellucidum | - |
| Accessory spleen | - |
| Autosomal dominant inheritance | - |
| Cavum septum pellucidum | - |
| Cleft upper lip | - |
| Decreased fetal movement | - |
| Ectopia pupillae | - |
| Gastroesophageal reflux | - |
| Hip dislocation | - |
| Hyperconvex fingernails | - |
| Intellectual disability, severe | - |
| Low posterior hairline | - |
| Malrotation of small bowel | - |
| 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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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
