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Disease Profile

Trichorhinophalangeal syndrome type 1

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)

TRPS1; Giedion syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases

Summary

Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder.[1] TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature.[2] The range and severity of symptoms may vary from case to case.[1] Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.[3]

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
Abnormally low-pitched voice
0010300
Accelerated bone age after puberty
0002805
Arthralgia
Joint pain
0002829
Autosomal dominant inheritance
0000006
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Chin with horizontal crease
Chin with horizontal groove
Horizontal chin skin cleft

[ more ]

0011823
Concave nail
Spoon-shaped nails
0001598
Cone-shaped epiphyses of the middle phalanges of the hand
Cone-shaped end part of the middle hand bones
0010259
Cone-shaped epiphyses of the proximal phalanges of the hand
Cone-shaped end part of the innermost hand bones
0010270
Coxa magna
0003279
Deep philtrum
0002002
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Flat capital femoral epiphysis
Flat end part of innermost thighbone
0003370
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Ivory epiphyses of the distal phalanges of the hand
Increased bone density of end part of the outermost hand bones
0010252
Microdontia
Decreased width of tooth
0000691
Narrow palate
Narrow roof of mouth
0000189
Osteoarthritis
Degenerative joint disease
0002758
Osteopenia
0000938
Pear-shaped nose
0000447
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Scapular winging
Winged shoulder blade
0003691
Slow-growing hair
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth

[ more ]

0002217
Sparse hair
0008070
Sparse lateral eyebrow
Limited hair on end of eyebrow
0005338
Swelling of proximal interphalangeal joints
Swelling of innermost hinge joints
0006253
Thin eyebrow
Thin eyebrows
0045074
Thin nail
Thin nails

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 1. 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 1. Click on the link to view a sample search on this topic.

References

  1. Trichorhinophalangeal Syndrome Type I. National Organization for Rare Disorders (NORD). 2005; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trichorhinophalangeal%20Syndrome%20Type%20I. Accessed 2/18/2010.
  2. TRPS1. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/gene=trps1. Accessed 2/18/2010.
  3. 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.

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