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Trichorhinophalangeal Syndrome


Presentation

  • Patient's mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia.[ncbi.nlm.nih.gov]
Turkish
  • To further delineate this newly recognized entity, we report on a patient from a Turkish family segregating TRPS III in 7 family members.[ncbi.nlm.nih.gov]
Failure to Thrive
  • Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com]
Prognathism
  • […] variable degree of alopecia. [3] Sparseness of hairs is also found over eyebrow (mainly lateral aspect), eyelash, axilla, and pubic region. [2] Craniofacial abnormalities include bulbous pear-shaped nose, elongated philtrum, thin upper lip, and maxillary prognathism[ijpd.in]
Sparse Fine Hair
Arthritis
  • The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis.[ncbi.nlm.nih.gov]
  • The degenerative process resembles early arthritis. It is not uncommon for anyone suffering from TRPS to experience hip problems requiring total hip replacements, back problems, knee problems, feet problems, arthritis and osteoarthritis.[elaineadairmichalakfoundation.org]
  • […] slow-growing hair, usually light in colour Prominent tip of the nose Protruding ears Fingers and toes may be short and crooked Problems with the bones and joints which may appear as congenital hip problems, Perthes disease of the hip, and early-onset of osteo-arthritis[trpsuk.org]
  • Complications associated with Trichorhinophalangeal Syndrome Type I may include: Individuals with TRPS1 may have extreme pain due to arthritis, loss of bone, and limited range of motion.[dovemed.com]
  • In some cases, affected individuals may develop pain and limitation of movements in the hips and/or hands; inflammation and swelling (arthritis) in the fingers, elbows, and/or spine may also develop.[rarediseases.org]
Short Hands
  • Postnatal growth was always below - 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands[ncbi.nlm.nih.gov]
Small Hand
  • Patient's mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia.[ncbi.nlm.nih.gov]
Macrocephaly
  • Postnatal growth was always below - 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands[ncbi.nlm.nih.gov]
Joint Swelling
  • Swelling of innermost hinge joints 0006253 Thin eyebrow Thin eyebrows 0045074 Thin nail Thin nails 0001816 Thin upper lip vermilion Thin upper lip 0000219 Showing of 61 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other[rarediseases.info.nih.gov]

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]

Treatment

  • The appropriate advancement of bone age during treatment suggests that his final height will not be adversely affected with GH treatment.[ijpeonline.biomedcentral.com]
  • Treatment often requires a multi-disciplinary approach. The degenerative process resembles early arthritis.[elaineadairmichalakfoundation.org]
  • 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]
  • Standard Therapies Treatment The treatment of TRPS3 is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling.[ncbi.nlm.nih.gov]

Prognosis

  • […] trichorhinophalangeal syndrome type II, also known as the Langer-Giedion syndrome, may present to the health care-givers or physicians in various specialties and need to be recognised in order that accurate diagnosis, management and counselling about prognosis[ncbi.nlm.nih.gov]
  • Of interest, the right hip appeared to follow a pattern of changes consistent with Meyer's dysplasia, a condition that resembles Perthes disease but has an earlier age of onset and a better prognosis, with near-complete recovery in this case.[healio.com]
  • 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]
  • […] the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders What is the Prognosis[dovemed.com]
  • The prognosis of the patients with a low expression of TRPS1 was significantly worse than that of those with a high expression of TRPS1 (p 0.043 and p 0.048, respectively).[sciforschenonline.org]

Etiology

  • This syndrome bears in itself short stature of unknown etiology with normal growth hormone production. The skeletal deformities doe not affect the physical activity, and life span is not reduced.[ncbi.nlm.nih.gov]
  • Elsevier Health Sciences, ١٨‏/٠٨‏/٢٠١٣ - 979 من الصفحات Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.com]
  • 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]
  • Meyer7 identified an association between hip dysplasia and Perthes disease and proposed a common vascular etiology.[healio.com]
  • (Etiology) Trichorhinophalangeal Syndrome Type 1 is a genetic disorder, which is commonly inherited in an autosomal dominant pattern.[dovemed.com]

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]
  • Epidemiology of breast cancer. Surg Oncol Clin N Am. 2014; 23:409–22. 2. Tao Z, Shi A, Lu C, Song T, Zhang Z, Zhao J. Breast Cancer: epidemiology and Etiology. Cell Biochem Biophys. 2015; 72:333-8. 3.[oncotarget.com]
  • This requires that the audiologist be familiar with the genetic epidemiology of hearing loss and resources for referral and information.[asha.org]
Sex distribution
Age distribution

Pathophysiology

  • 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

  • The data presented stress the importance of identifying the syndrome early in life so as to prevent the development of impaired hand and hip function.[ncbi.nlm.nih.gov]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]

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