Pitt-Hopkins syndrome

Title

Other Names:

Pitt Hopkins syndrome; Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Pitt-Hopkins syndrome is a genetic condition characterized by intellectual disability and developmental delay, recurrent seizures (epilepsy), distinctive facial features, and breathing problems (i.e., periodic hyperventilation followed by apnea). This condition is caused by mutations in the TCF4 transcription factor gene.^[1]^[2] Pitt-Hopkins syndrome is inherited in an autosomal dominant pattern. Most cases, however, result from a new (de novo) mutation and occur on people with no history of the condition in their family.^[2] Treatment involves addressing the individual problems seen in each patient, and may include early intervention services, special education, and routine management of medicals concerns like seizures and myopia.^[3]

Last updated: 1/4/2016

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of the palate	Abnormality of the roof of the mouth	0000174
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Aphasia	Difficulty finding words Losing words Loss of words [ more ]	0002381
Astigmatism		0000483
Broad fingertip	Broad fingertips	0011300
Coarse facial features	Coarse facial appearance	0000280
Constipation		0002019
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Dysphasia		0002357
Echolalia		0010529
Esophagitis	Inflammation of the esophagus	0100633
Failure of eruption of permanent teeth		0006352
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Finger clinodactyly		0040019
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Global developmental delay		0001263
Hiatus hernia	Stomach hernia	0002036
Intellectual disability, moderate		0002342
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Misalignment of teeth	Abnormal dental position Abnormal teeth spacing Abnormality of alignment of teeth Abnormality of teeth spacing Crooked teeth Malaligned teeth Malposition of teeth Malpositioned teeth [ more ]	0000692
Muscular hypotonia	Low or weak muscle tone	0001252
Mutism	Inability to speak Muteness [ more ]	0002300
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Narrow forehead	Decreased width of the forehead	0000341
Overhanging nasal tip	Drooping nasal tip Hooked tip of nose Low hanging nasal tip Nasal tip, overhanging [ more ]	0011833
Pes planus	Flat feet Flat foot [ more ]	0001763
Pes valgus		0008081
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Short metatarsal	Short long bone of foot	0010743
Short neck	Decreased length of neck	0000470
Short philtrum		0000322
Single transverse palmar crease		0000954
Small hand	Disproportionately small hands	0200055
Specific learning disability		0001328
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Thickened helices		0000391
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide mouth	Broad mouth Large mouth [ more ]	0000154
30%-79% of people have these symptoms
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Acrocyanosis		0001063
Aplasia/Hypoplasia of the corpus callosum		0007370
Gait ataxia		0002066
Hyperventilation	Rapid breathing	0002883
Narrow foot	Slender feet	0001786
Seizures	Seizure	0001250
Sleep apnea		0010535
Small cerebral cortex		0002472
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Triangular nasal tip	Triangular shaped tip of nose	0000451
5%-29% of people have these symptoms
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Autistic behavior		0000729
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Happy demeanor		0040082
Hypopigmented skin patches		0001053
Micropenis	Short penis Small penis [ more ]	0000054
Postnatal growth retardation	Growth delay as children	0008897
Scoliosis	Abnormal curving of the spine	0002650
Self-injurious behavior	Self-injurious behaviour	0100716
Supernumerary nipple	Accessory nipple	0002558
1%-4% of people have these symptoms
Aganglionic megacolon		0002251
Hodgkin lymphoma		0012189
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Clinodactyly		0030084
Clubbing	Clubbing of fingers and toes	0001217
Cupped ear	Cup-shaped ears Simple, cup-shaped ears [ more ]	0000378
Dysautonomia		0002459
Encephalopathy		0001298
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypoplasia of the corpus callosum		0002079
Incoordination	Difficulties in coordination Incoordination of limb movements Limb incoordination [ more ]	0002311
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Intermittent hyperventilation	Intermittent overbreathing	0004879
Motor delay		0001270
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
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 Wide bridge of nose Widened nasal bridge [ more ]	0000431
Widely spaced teeth	Wide-spaced teeth Widely-spaced teeth [ more ]	0000687

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Diagnosis Diagnosis

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.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

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.

Organizations Supporting this Disease

Pitt Hopkins Research Foundation
E-mail: phrf@pitthopkins.org
Website: http://pitthopkins.org/

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Pitt Hopkins Syndrome Support Group
E-mail: pitt-hopkins@googlegroups.com
Website: http://groups.google.com/group/pitt-hopkins

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

Where to Start

Genetics Home Reference (GHR) contains information on Pitt-Hopkins syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Pitt-Hopkins syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

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GARD Answers GARD Answers

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

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References References

Pitt-Hopkins Syndrome. Online Mendelian Inheritance in Man. January 19, 2012; http://omim.org/entry/610954. Accessed 1/4/2016.
Pitt-Hopkins syndrome. Genetics Home Reference (GHR). February 2015; http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome. Accessed 1/4/2016.
Ardinger HH, Welsh HI, Saunders CJ. Pitt-Hopkins Syndrome. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK100240/. Accessed 1/4/2016.

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