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Disease Profile

Trichorhinophalangeal syndrome type 3

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

#N/A

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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Other names (AKA)

TRPS 3; Sugio-Kajii Syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases

Summary

Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.[1] TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).[2][3] The range and severity of symptoms may vary from case to case.[1] TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12.[2] TRPS3 is inherited in an autosomal dominant manner.[1][2]

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
Micrognathia
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
Short stature
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 hypotonia
Low or weak muscle tone
0001252
Pectus carinatum
Pigeon chest
0000768
Scoliosis
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
Autosomal dominant inheritance
0000006
Brachydactyly
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

  1. 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.
  2. 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.
  3. TRPS1. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/gene=trps1. Accessed 2/18/2010.