U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Trichorhinophalangeal dysplasia type I(TRPS1)

MedGen UID:
140929
Concept ID:
C0432233
Disease or Syndrome
Synonyms: Giedion syndrome; Trichorhinophalangeal syndrome type 1; Trichorhinophalangeal Syndrome Type I; TRPS I; TRPS1
SNOMED CT: Trichorhinophalangeal dysplasia type I (254091006); Trichorhinophalangeal syndrome I (254091006); TRPS I - Trichorhinophalangeal syndrome I (254091006)
 
Gene (location): TRPS1 (8q23.3)
 
Monarch Initiative: MONDO:0008596
OMIM®: 190350

Disease characteristics

Excerpted from the GeneReview: Trichorhinophalangeal Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability. [from GeneReviews]
Authors:
Saskia Maas  |  Adam Shaw  |  Hennie Bikker, et. al.   view full author information

Additional descriptions

From OMIM
Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by Momeni et al., 2000).  http://www.omim.org/entry/190350
From MedlinePlus Genetics
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).

In people with TRPS I, the ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped. Additionally, the fingernails and toenails are typically thin and abnormally formed. Affected individuals often have short feet.

Individuals with TRPS I may have a misalignment of the hip joints (hip dysplasia), which often develops in early adulthood but can occur in infancy or childhood. Children with TRPS I often have an unusually large range of movement (hypermobility) in many of their joints. Over time, however, the joints may break down (degenerate), leading to joint pain and a limited range of joint movement.

The characteristic appearance of individuals with TRPS I involves thick eyebrows; a broad nose with a rounded tip; large ears, a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia) or increased (supernumerary) in number. Almost all affected individuals have sparse scalp hair. Males are particularly affected by hair loss with many being nearly or completely bald soon after puberty. Some children with this condition have loose skin, but the skin becomes tighter over time. Individuals with TRPS I may experience excessive sweating (hyperhidrosis).  https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-i

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Cone-shaped epiphyses of the middle phalanges of the hand
MedGen UID:
348715
Concept ID:
C1860828
Finding
Swelling of proximal interphalangeal joints
MedGen UID:
395995
Concept ID:
C1860841
Finding
Ivory epiphyses of the distal phalanges of the hand
MedGen UID:
866945
Concept ID:
C4021301
Anatomical Abnormality
Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Cone-shaped epiphyses of the proximal phalanges of the hand
MedGen UID:
869503
Concept ID:
C4023931
Anatomical Abnormality
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Abnormally low-pitched voice
MedGen UID:
869488
Concept ID:
C4023915
Finding
An abnormal decrease in the pitch of the voice.
Legg-Calve-Perthes disease
MedGen UID:
6035
Concept ID:
C0023234
Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Flat capital femoral epiphysis
MedGen UID:
334001
Concept ID:
C1842155
Finding
An abnormal flattening of the proximal epiphysis of the femur.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Accelerated bone age after puberty
MedGen UID:
348195
Concept ID:
C1860825
Finding
Coxa magna
MedGen UID:
395992
Concept ID:
C1860826
Disease or Syndrome
Widening of the femoral head and neck.
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Deep philtrum
MedGen UID:
374311
Concept ID:
C1839797
Finding
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Pear-shaped nose
MedGen UID:
377912
Concept ID:
C1853482
Finding
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Chin with horizontal crease
MedGen UID:
868766
Concept ID:
C4023171
Finding
Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
Thin eyebrow
MedGen UID:
924116
Concept ID:
C4281771
Finding
Decreased diameter of eyebrow hairs.
Concave nail
MedGen UID:
66369
Concept ID:
C0221261
Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
Thin nail
MedGen UID:
98073
Concept ID:
C0423823
Finding
Nail that appears thin when viewed on end.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Slow-growing hair
MedGen UID:
371309
Concept ID:
C1832348
Finding
Hair whose growth is slower than normal.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrichorhinophalangeal dysplasia type I

Recent clinical studies

Etiology

Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650
Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A
Am J Med Genet A 2013 Sep;161A(9):2216-25. Epub 2013 Aug 2 doi: 10.1002/ajmg.a.36062. PMID: 23913778
Itin PH, Eich G, Fistarol SK
Dermatology 2005;211(2):162-4. doi: 10.1159/000086450. PMID: 16088167
Wasant P, Waeteekul S, Rimoin DL, Lachman RS
Southeast Asian J Trop Med Public Health 1995;26 Suppl 1:59-67. PMID: 8629144
Prens EP, Peereboom-Wynia JD, de Bruyn WC, van Joost T, Stolz E
Acta Derm Venereol 1984;64(3):249-53. PMID: 6204489

Diagnosis

Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN
Am J Med Genet A 2017 Jan;173(1):99-107. Epub 2016 Oct 5 doi: 10.1002/ajmg.a.37967. PMID: 27706911
Lubinsky M, Kantaputra PN
Am J Med Genet A 2016 Oct;170(10):2611-6. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37763. PMID: 27250821
Bennàssar A, Ferrando J, Grimalt R
World J Pediatr 2011 May;7(2):111-7. Epub 2011 May 15 doi: 10.1007/s12519-011-0262-z. PMID: 21574026
Carrington PR, Chen H, Altick JA
J Am Acad Dermatol 1994 Aug;31(2 Pt 2):331-6. doi: 10.1016/s0190-9622(94)70166-0. PMID: 8034799

Therapy

Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650
Itin PH, Eich G, Fistarol SK
Dermatology 2005;211(2):162-4. doi: 10.1159/000086450. PMID: 16088167

Prognosis

Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN
Am J Med Genet A 2017 Jan;173(1):99-107. Epub 2016 Oct 5 doi: 10.1002/ajmg.a.37967. PMID: 27706911
Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A
Am J Med Genet A 2013 Sep;161A(9):2216-25. Epub 2013 Aug 2 doi: 10.1002/ajmg.a.36062. PMID: 23913778
Itin PH, Eich G, Fistarol SK
Dermatology 2005;211(2):162-4. doi: 10.1159/000086450. PMID: 16088167

Clinical prediction guides

Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN
Am J Med Genet A 2017 Jan;173(1):99-107. Epub 2016 Oct 5 doi: 10.1002/ajmg.a.37967. PMID: 27706911
Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A
Am J Med Genet A 2013 Sep;161A(9):2216-25. Epub 2013 Aug 2 doi: 10.1002/ajmg.a.36062. PMID: 23913778
Itin PH, Eich G, Fistarol SK
Dermatology 2005;211(2):162-4. doi: 10.1159/000086450. PMID: 16088167
Paterson A, Thomas PS
Australas Radiol 2000 Aug;44(3):325-7. doi: 10.1046/j.1440-1673.2000.00822.x. PMID: 10974729

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...