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Disease Profile
Pitt-Hopkins syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
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
Pitt-Hopkins
PTHS is caused by a
There is no cure for PTHS, but there are ways to manage or improve many of the signs and symptoms. Management may include early intervention services for infants and young children, an individualized education plan for school-aged children, behavioral therapy, and routine treatment of seizures, nearsightedness, constipation, and skeletal abnormalities.[1]
Symptoms
Additional signs and symptoms of PTHS may include:[1][2][3][4]
- Behavioral differences: Symptoms of autism spectrum disorder may be present. Other behavioral characteristics that have been reported include unusual behavior during feeding, aggressive outbursts, anxiety, hand biting and head banging, and other stereotypic hand or head movements. However, many children with PTHS are described as having happy dispositions.
- Distinctive facial features: These may become more obvious with age and may include deeply-set eyes, a prominent nose, short philtrum, wide mouth, full lower lip, widely-spaced teeth, and/or a prominent chin.
- Breathing problems: These may include episodes of rapid breathing (episodic hyperventilation) followed by episodes of struggling to breath or not breathing. Episodes of breathing problems may be triggered by anxiety, excitement, or tiredness. Failure to breathe may cause a bluish discoloration of the skin (cyanosis) or fainting.
Seizures : These occur in almost half of people with PTHS, and the type and severity varies. Seizures may begin any time during childhood or adolescence.- Sleep disturbances: These may include problems falling asleep or staying asleep, and/or night terrors.
- Eye or vision problems: Nearsightedness (myopia) can be severe and may become apparent before 2 years of age. Other eye abnormalities may include misalignment (
strabismus ) and astigmatism. - Gastrointestinal problems: These may include early feeding issues (which often resolve), constipation (which can be severe), and reflux.
- Skeletal features: Those that have been reported in people with PTHS include
scoliosis , flat feet, clubfoot, small hands and feet, broad fingertips or tapered fingers, bent or curved finger (clinodactyly), and overlapping toes.
More detailed information about signs and symptoms that may occur in people with PTHS is available from the National Organization for Rare Disorders (NORD) and GeneReviews.
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 palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
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 |
Abnormal curving of the cornea or lens of the eye
|
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 |
Echoing another person's speech
|
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 |
0001263 | |||
Hiatus hernia |
Stomach hernia
|
0002036 | ||
Intellectual disability, moderate |
IQ between 34 and 49
|
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 |
Persistent blue color of hands, feet, or parts of face
|
0001063 | ||
Aplasia/Hypoplasia of the |
0007370 | |||
Gait |
Inability to coordinate movements when walking
|
0002066 | ||
Hyperventilation |
Rapid breathing
|
0002883 | ||
Narrow foot |
Slender feet
|
DiagnosisMaking 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
Treatment There is no cure for Pitt-Hopkins
Children with PTHS should continue to have developmental assessments as their needs change with age. Regular appointments with an Related diseasesRelated 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.
OrganizationsSupport 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
Social Networking Websites
Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
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