Rare Endocrinology News

Disease Profile

Trichorhinophalangeal syndrome type 2

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

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.

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 2; Langer Giedion Syndrome; LGS;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases;

Summary

Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder.[1] The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers).[2] The range and severity of symptoms varies greatly from person to person.[1] TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported.[2] TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person.[1][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
Bone pain
0002653
Bulbous nose
0000414
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Deep philtrum
0002002
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Long philtrum
0000343
Low-set, posteriorly rotated ears
0000368
Multiple long-bone exostoses
0005039
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Short stature
Decreased body height
Small stature

[ more ]

0004322
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair

[ more ]

0002209
Thin upper lip vermilion
Thin upper lip
0000219
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the mandible
0009118
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

0001373
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin

[ more ]

0001582
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
5%-29% of people have these symptoms
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth

[ more ]

0000174
Abnormality of cardiovascular system morphology
0030680
Avascular necrosis of the capital femoral epiphysis
0005743
Bilateral single transverse palmar creases
0007598
Brachydactyly
Short fingers or toes
0001156
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Genu valgum
Knock knees
0002857
Hip dysplasia
0001385
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth

[ more ]

0011069
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Talipes
0001883
Thick nasal alae
0009928
Ventriculomegaly
0002119
Vesicoureteral reflux
0000076
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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Exotropia
Outward facing eye ball
0000577
Fragile nails
Brittle nails
0001808
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hydrometrocolpos
0030010
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints

[ more ]

0001382
Macrotia
Large ears
0000400
Mild postnatal growth retardation
0001530
Nevus
Mole
0003764
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Redundant skin in infancy
Excess skin in infancy
0007595
Rib exostoses
0000896
Scapular exostoses
0000918
Scapular winging
Winged shoulder blade
0003691
Scoliosis
0002650
Syndactyly
Webbed fingers or toes
0001159

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.

    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.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Trichorhinophalangeal syndrome type 2. 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

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • 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 2. Click on the link to view a sample search on this topic.

          References

          1. Trichorhinophalangeal Syndrome Type II. National Organization for Rare Disorders (NORD). May 25, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract. Accessed 5/17/2015.
          2. Lacombe D. Langer-Giedon Syndrome. Orphanet. April 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502. Accessed 5/17/2015.
          3. Langer-Giedion syndrome. Genetics Home Reference (GHR). February 2009; https://ghr.nlm.nih.gov/condition/langer-giedion-syndrome. Accessed 5/17/2015.

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