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Disease Profile
Trichorhinophalangeal syndrome type 3
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.
#N/A
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.
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)
TRPS 3; Sugio-Kajii Syndrome
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases
Summary
Trichorhinophalangeal
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 | ||
| Bulbous nose | 0000414 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Frontal bossing | 0002007 | |
| Long philtrum | 0000343 | |
| Long upper lip |
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip
[ more ] |
0011341 |
| Macrotia |
Large ears
|
0000400 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Shortening of all phalanges of fingers |
Shortening of all finger bones
|
0011910 |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
| 30%-79% of people have these symptoms | ||
| Avascular necrosis of the capital femoral epiphysis | 0005743 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Fragile nails |
Brittle nails
|
0001808 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] |
0011069 |
| Leukonychia |
White discoloration of nails
|
0001820 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
| Accelerated bone age after puberty | 0002805 | |
| 0000006 | ||
|
Short fingers or toes
|
0001156 | |
| Cone-shaped epiphyses of the middle phalanges of the hand |
Cone-shaped end part of the middle hand bones
|
0010259 |
| Coxa magna | 0003279 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
| Osteopenia | 0000938 | |
| Pear-shaped nose | 0000447 | |
| Short finger |
Stubby finger
|
0009381 |
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Short palm | 0004279 | |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Smooth philtrum | 0000319 | |
| Sparse hair | 0008070 | |
| Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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.
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 Trichorhinophalangeal syndrome type 3. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Trichorhinophalangeal syndrome type 3. Click on the link to view a sample search on this topic.
References
- Trichorhinophalangeal Syndrome Type III. National Organization for Rare Disorders (NORD). 2005; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trichorhinophalangeal%20Syndrome%20Type%20III. Accessed 2/18/2010.
- Trichorhinophalangeal syndrome, type 1 and 3. Orphanet. 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258. Accessed 2/18/2010.
- TRPS1. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/gene=trps1. Accessed 2/18/2010.