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) |
| Abnormality of the palate | 90% |
| Abnormality of the teeth | 90% |
| Anteverted nares | 90% |
| Cognitive impairment | 90% |
| Constipation | 90% |
| Deeply set eye | 90% |
| Incoordination | 90% |
| Microcephaly | 90% |
| Muscular hypotonia | 90% |
| Neurological speech impairment | 90% |
| Thick lower lip vermilion | 90% |
| Thickened helices | 90% |
| Wide mouth | 90% |
| Apnea | 50% |
| Cryptorchidism | 50% |
| Myopia | 50% |
| Seizures | 50% |
| Tapered finger | 50% |
| Hypopigmented skin patches | 7.5% |
| Hypoplasia of penis | 7.5% |
| Absent speech | - |
| Aggressive behavior | - |
| Astigmatism | - |
| Autosomal dominant inheritance | - |
| Clinodactyly | - |
| Clubbing | - |
| Coarse facial features | - |
| Cupped ear | - |
| Dysautonomia | - |
| Encephalopathy | - |
| Full cheeks | - |
| Gait ataxia | - |
| Gastroesophageal reflux | - |
| Hypoplasia of the corpus callosum | - |
| Intellectual disability, progressive | - |
| Intellectual disability, severe | - |
| Intermittent hyperventilation | - |
| Micropenis | - |
| Motor delay | - |
| Narrow foot | - |
| Narrow forehead | - |
| Open mouth | - |
| Pes planus | - |
| Short neck | - |
| Short philtrum | - |
| Single transverse palmar crease | - |
| Strabismus | - |
| Upslanted palpebral fissure | - |
| Wide nasal bridge | - |
| Widely spaced teeth | - |
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.
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.
The following diseases are related to Pitt-Hopkins syndrome. If you have a question about any of these diseases, you can contact GARD.
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
What is the prognosis for Pitt-Hopkins syndrome? See answer
