Rare Rheumatology News
Advertisement
Disease Profile
Rubinstein-Taybi 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.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q87.2
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)
Rubinstein syndrome; RSTS; Broad thumb-hallux syndrome;
Summary
Rubinstein-Taybi
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 | |||
Short fingers or toes
|
0001156 | ||
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 | |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | |
Feeding difficulties in infancy | 0008872 | ||
Global |
0001263 | ||
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Telecanthus |
Corners of eye widely separated
|
0000506 | |
30%-79% of people have these symptoms | |||
Abnormal distal phalanx morphology of finger |
Abnormality of the outermost finger bone
|
0009832 | |
Abnormality of cardiovascular system morphology | 0030680 | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Clubbing of toes | 0100760 | ||
Constipation | 0002019 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 | |
0000501 | |||
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 | |
Irritability |
Irritable
|
0000737 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
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 | |
5%-29% of people have these symptoms | |||
Capillary hemangioma |
Strawberry birthmark
|
0005306 | |
Finger |
0006101 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Hip dysplasia | 0001385 | ||
Keloids | 0010562 | ||
Polyhydramnios |
High levels of amniotic fluid
|
0001561 | |
Drooping upper eyelid
|
0000508 | ||
0001250 | |||
Percent of people who have these symptoms is not available through HPO | |||
Abnormal cornea morphology | 0000481 | ||
Abnormal number of teeth |
Abnormal tooth count
|
0006483 | |
Abnormality of refraction | 0000539 | ||
Abnormality of the cervical spine |
Abnormal cervical spine
|
0003319 | |
Abnormality of the kidney |
Abnormal kidney
|
0000077 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 | |
Agenesis of |
0001274 | ||
Agoraphobia |
Fear of open spaces
|
0000756 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more
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. Related 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. 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. 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. Rare Rheumatology News |