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Trichorhinophalangeal Syndrome Type 1 and 3

Trichorhinophalangeal Syndrome Type 3


Presentation

  • Additionally, they presented with a receded triangular medio-occipital hairline, which has not been described in TRPS I so far.[jamanetwork.com]
  • This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • The most distinguishable feature for TRPS II from type I and III is exostoses, which are only present in those individuals with a deletion that extends to EXT1.[molecularcytogenetics.biomedcentral.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Short Stature
  • Clinical description TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly.[orpha.net]
  • stature ; Shortening of all phalanges of fingers ; Sparse and thin eyebrow ; Sparse eyelashes ; Triangular face Associated Genes TRPS1 (Withdrawn symbols: GC79, LGCR ) Mouse Orthologs Trps1 (Withdrawn symbols: AI115454, AI447310, D15Ertd586e ) Source[mousephenotype.org]
  • 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).[diseaseinfosearch.org]
  • In addition, patients may show brachydactyly, distention and deviation of middle phalanges, hip malformation, and short stature.[jamanetwork.com]
Disturbance of Growth
  • While the mother and her older daughter had only discrete alopecia and hardly disturbed hair growth, the younger daughter presented with fine, slow-growing hair and diffuse alopecia.[jamanetwork.com]
Clubbed Finger
  • In addition, she had winged scapulae, long and clubbed-fingers. Her finger and toe nails were typically thin and dystrophic (Fig. 1 ). Her weight was only 13.25 kg ( st centile), and her height was 120 cm ( th centile).[molecularcytogenetics.biomedcentral.com]
Failure to Thrive
  • Case report We describe the case of a 13 months’ girl, brought to the gastroenterology department of a third level pediatric hospital because of failure to thrive. The patient was the only child born to unrelated parents.[ijponline.biomedcentral.com]
Recurrent Vomiting
Macrotia
  • […] epiphysis ; Bulbous nose ; Camptodactyly of finger ; Clinodactyly of the 5th finger ; Cone-shaped epiphysis ; Fragile nails ; Frontal bossing ; High palate ; Hyperlordosis ; Increased number of teeth ; Leukonychia ; Long philtrum ; Long upper lip ; Macrotia[mousephenotype.org]
  • Title Other Names: TRPS 3; Sugio-Kajii Syndrome Categories: Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. 0011341 Macrotia Large ears 0000400 Micrognathia Little[rarediseases.info.nih.gov]
Large Ears
  • Title Other Names: TRPS 3; Sugio-Kajii Syndrome Categories: Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. 0011341 Macrotia Large ears 0000400 Micrognathia Little[rarediseases.info.nih.gov]
Sparse Hair
  • Disease definition Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals[orpha.net]
  • 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).[diseaseinfosearch.org]
  • Trichorhinophalangeal syndrome type 1 (medical condition): A rare genetic disorder characterized by bulbous nose (748.1), sparse hair ( 704.8) and coning of epiphyses(732.9). 02-03-2010, 01:45 PM #3 Location Alexandria Minnesota Chapter Posts 50 I would[aapc.com]
  • hair 0008070 Sparse lateral eyebrow Limited hair on end of eyebrow 0005338 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Showing of 45 Last updated: 3/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging[rarediseases.info.nih.gov]
Alopecia
  • While the mother and her older daughter had only discrete alopecia and hardly disturbed hair growth, the younger daughter presented with fine, slow-growing hair and diffuse alopecia.[jamanetwork.com]
  • Assigned diseases: Back to detailed view In the following you will find the diseases that this support group organisation focuses on: ADULT syndrome AREDYLD syndrome Acrofacial dysostosis, Weyers type Alopecia-contractures-dwarfism-intellectual disability[se-atlas.de]
  • This case underlines the fact that whenever the dermatologist is encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind.[ijtrichology.com]
  • 2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and[nfed.org]
  • Case Report A 10 year-old Muslim girl presented with fronto-temporal alopecia with fine, sparse hair present since early childhood. Eyebrows were sparse on lateral compared to the medial sides. Nose was bulbous.[ijdvl.com]
Leukonychia
  • Phenotypes Avascular necrosis of the capital femoral epiphysis ; Bulbous nose ; Camptodactyly of finger ; Clinodactyly of the 5th finger ; Cone-shaped epiphysis ; Fragile nails ; Frontal bossing ; High palate ; Hyperlordosis ; Increased number of teeth ; Leukonychia[mousephenotype.org]
  • 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[rarediseases.info.nih.gov]
Sparse Eyelashes
  • eyelashes ; Triangular face Associated Genes TRPS1 (Withdrawn symbols: GC79, LGCR ) Mouse Orthologs Trps1 (Withdrawn symbols: AI115454, AI447310, D15Ertd586e ) Source ORPHA:77258 (names, synonyms, disease associated genes), Orphanet (disease classes)[mousephenotype.org]
  • 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[rarediseases.info.nih.gov]
Normal Hair
  • Trichologic abnormalities include fine, sparse, or even brittle scalp hair 9 - 12 and diffuse alopecia ranging from almost normal hair covering to severe hypotrichosis.[jamanetwork.com]
Severe Brachydactyly
  • Clinical description TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly.[orpha.net]
  • TRPS III Severe end of TRPS I Additional features : More severe brachydactyly and short stature. References & Further reading Momeni P, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.[genetics4medics.com]
  • In TRPS3 a more severe brachydactyly and growth retardation are observed. {ECO:0000269 PubMed:11112658, ECO:0000269 PubMed:11807863}. Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]
Osteopenia
  • 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[rarediseases.info.nih.gov]
Decrease in Height
  • 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[rarediseases.info.nih.gov]
Short Hands
  • In addition, short hands (feet) and impaired growth are common in all types of TRPS, while body weight is usually normal in relation to height.[molecularcytogenetics.biomedcentral.com]
  • Physical examination revealed peculiar characteristics: sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet (Fig. 2 a, b, c).[ijponline.biomedcentral.com]
Short Hands
  • In addition, short hands (feet) and impaired growth are common in all types of TRPS, while body weight is usually normal in relation to height.[molecularcytogenetics.biomedcentral.com]
  • Physical examination revealed peculiar characteristics: sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet (Fig. 2 a, b, c).[ijponline.biomedcentral.com]
Frontal Bossing
  • Type 1 And 3 Synonyms - Classification bone, developmental, genetic, skin Phenotypes Avascular necrosis of the capital femoral epiphysis ; Bulbous nose ; Camptodactyly of finger ; Clinodactyly of the 5th finger ; Cone-shaped epiphysis ; Fragile nails ; Frontal[mousephenotype.org]
Withdrawn
  • […] symbols: GC79, LGCR ) Mouse Orthologs Trps1 (Withdrawn symbols: AI115454, AI447310, D15Ertd586e ) Source ORPHA:77258 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes[mousephenotype.org]

Workup

  • Measurement of IGF-1 has shown comparable diagnostic performance with GH stimulation tests and are valuable for patients’ convenience and ease of performance and can be useful in the initial workup of short stature. 7 IGF-I level below the mean according[124.205.33.103]
Shortened Long Bone
  • 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,[rarediseases.info.nih.gov]
Delayed Bone Age
  • As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature.[rarediseases.org]
  • Bone age radiograph revealed the presence of normally-shaped phalangeal epiphyses with a significantly delayed bone age of 3 years 6 months ( 4.3 SD).[ijpeonline.biomedcentral.com]

Treatment

  • Management and treatment Treatment is symptomatic. Plastic surgery may be proposed. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Treatments are related to extent of deformity, remodeling post-surgery and possible recurrence. This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Prognosis After the first year of life, survival rates are high and morbidity is low.[cambridge.org]
  • The prognosis for life-span is long but intellectual disability, the lack of symmetry in the limbs causes pain and educational issues later in life.[brighthub.com]
  • SALVATONI A; TRIFIRÒ G; BECCARIA L; BELLIZZI M; BELLONE J; BRUNANI A; CAPPA M; CASELLI G; CERIONI V; DELVECCHIO M; GIARDINO D; IANNÌ F; MEMO L; PILOTTA A; POMARA C; RADETTI G; SACCO M; SANZARI A; SARTORIO A; TONINI G; VETTOR R; ZAGLIA F; CHIUMELLO G 5 LA PROGNOSI[iris.unige.it]
  • Loss of trio-rhino-phalangeal syndrome-1 (TRPS 1) expression as a baiomarker of poor prognosis in patients with gastric cancer. Int J Cancer Res Mol Mech 2. DOI Available from: . [Last accessed on 2016 Jun 04]. 5.[ijpd.in]
  • What is the prognosis for a person with Usher Syndrome Type 1F? Usher syndrome type 1F causes severe hearing and vision impairment, however it does not affect one’s lifespan or intelligence.[jscreen.org]

Etiology

  • Etiology TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Genetic counseling Transmission of trichorhinophalangeal syndrome type 1 and 3 is autosomal dominant. Management and treatment Treatment is symptomatic.[orpha.net]
  • Clinically, each CGS is characterized by a specific and complex phenotype, which was recognized in most cases as a genetic syndrome before knowledge of their cytogenetic etiology.[ommbid.mhmedical.com]
  • This suggests a possible etiological association. Mutations in Parkin, PINK1, and DJ1 known to cause early-onset PD were excluded, and we propose that this levodopa sensitive parkinsonian syndrome may be a possible feature of TRPS.[movementdisorders.org]

Epidemiology

  • Summary Epidemiology So far, more than 100 cases have been described in the literature.[orpha.net]
  • […] upper vermilion border and protruding ears,associated with skeletal anomalies including cone-shaped epiphyses at the phalanges,hip malformation and short stature Relevant External Links for TRPS1 Genetic Association Database (GAD) TRPS1 Human Genome Epidemiology[genecards.org]
  • DI BATTISTA; PEZZOLO A 4 The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. 2008 GRUGNI G; CRINÒ A; BOSIO L; CORRIAS A; CUTTINI M; DE TONI T; E.[iris.unige.it]
Sex distribution
Age distribution

Pathophysiology

  • Department of Paediatrics and Surgery, Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia (7) Reproductive Medicine Center, Clinical College of PLA Affiliated Anhui Medical University, Hefei, China (8) Department of Pathophysiology[molecularcytogenetics.biomedcentral.com]
  • Successful identification of USH1 causative mutation provides more probability for elucidating the underlying pathophysiology of USH.[oncotarget.com]
  • Genetics and pathophysiology of TRPS I Consistent with the TRPS I phenotype, cartilage and hair follicles are among the limited tissues that express the gene.[ijpeonline.biomedcentral.com]

Prevention

  • Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 2-3 weeks price : 860.00 Tricho-rhino-phalangeal Syndrome Types I and III via the TRPS1 Gene method(s): Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics[genetests.org]
  • To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break.[medlineplus.gov]
  • The absence of clarin-1 leads to a progressive hearing impairment, which could be prevented by gene therapy that targets the sensory hair cells in the inner ear.[pasteur.fr]

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