Rare Pulmonology News

Disease Profile

Pitt-Hopkins-like syndrome

Prevalence
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

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 221150

Definition
Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Visit the Orphanet disease page for more resources.

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% 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
Impaired social interactions
Impaired social interaction
Poor social interactions

[ more ]

0000735
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Severe global developmental delay
0011344
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Chronic constipation
Infrequent bowel movements
0012450
Epileptic encephalopathy
0200134
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hyperventilation
Rapid breathing
0002883
Seizure
0001250
Sleep-wake cycle disturbance
0006979
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
5%-29% of people have these symptoms
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Autism
0000717
Brachycephaly
Short and broad skull
0000248
Broad-based gait
Wide based walk
0002136
Bruxism
Teeth grinding
0003763
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cerebral white matter hypoplasia
0012430
Cow milk allergy
Milk allergy
0100327
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Drooling
Dribbling
0002307
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Elevated hepatic transaminase
High liver enzymes
0002910
Flat occiput
0005469
Frontal bossing
0002007
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Gluten intolerance
Gluten sensitivity
0012538
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High anterior hairline
High frontal hairline
0009890
High-pitched cry
0025430
Hyperactivity
More active than typical
0000752
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Hypsarrhythmia
0002521
Infra-orbital crease
Crease in skin under the eye
Groove in skin under the eye

[ more ]

0100876
Long philtrum
0000343
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Perivascular spaces
0012520
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Pointed chin
Pointy chin
Small pointed chin
Witch's chin

[ more ]

0000307
Poor speech
0002465
Precocious puberty
Early onset of puberty
Early puberty

[ more ]

0000826
Prominent glabella
Prominent area between the eyebrows
Protruding area between the eyebrows

[ more ]

0002057
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Scoliosis
0002650
Self-injurious behavior
Self-injurious behaviour
0100716
Telecanthus
Corners of eye widely separated
0000506
Thin upper lip vermilion
Thin upper lip
0000219
Tricuspid regurgitation
0005180
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Constipation
0002019
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Feeding difficulties
Feeding problems

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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

    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.

    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.

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