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Trichorhinophalangeal Dysplasia Type 1

Tricho-Rhino-Phalangeal Syndrome


Presentation

  • We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands.[manipal.pure.elsevier.com]
  • CASE PRESENTATION To cite: Narayanan R, Chennareddy S.[docksci.com]
  • Case presentation We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features.[ijponline.biomedcentral.com]
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]
  • Several authors reported the management of TRPS short stature by growth hormone (GH) supplementation [ 9 – 11 ]. The results available to date are, however controversial.[bmcmedgenet.biomedcentral.com]
Alopecia
  • Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem[unboundmedicine.com]
  • Affected individuals may lose most or all of their scalp hair (alopecia) at a young age, in some cases, by the second decade of life.[rarediseases.org]
  • \n\nSource: Diseases Database\n\nSee also the symptoms of Alopecia Areata and ","Kidney failure\n","Respiratory failure\n","Heart failure\n","Endocrine failure\n\nSee also the symptoms of Amyloidosis, inflammatory and Amyl","Burst aortic aneurysm\n","[webhealthnetwork.com]
  • Other skeletal dysplasias such as oral-facial-digital syndrome and chondroectodermal dysplasia were considered among the differentials as they can also present with alopecia, structural craniofacial abnormalities and cone-shaped epiphyses mimicking TRPS[docksci.com]
  • The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia.[ijponline.biomedcentral.com]
Thin Eyebrows
  • 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 healthcare professionals who have experience[rarediseases.info.nih.gov]
  • (scoliosis) Excessive curvature of the lower back (lordosis) Pelvis Deformities in the large bone in the leg/ femur Hands Short and misshapen fingers Feet Flat foot Short toes Nails Thin Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows[nfed.org]
  • Ectodermal anomalies consist of slowly growing and sparse scalp hair, with receded medio-occipital hairline, medially thick and laterally thin eyebrows, dystrophic nails and dental anomalies, such as supernumerary teeth.[ijponline.biomedcentral.com]
Hypoplastic Nails
  • Also includes hypoplastic nails and short metatarsal and metacarpal joints. Mental retardation is not associated with this medical condition. Carrington PR, Chen H, Altick JA: Trichorhinopharyngeal syndrome, type 1.[accessanesthesiology.mhmedical.com]
Sparse Eyelashes
  • 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]
Large Ears
  • 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[ghr.nlm.nih.gov]
  • Title Other Names: TRPS1; Giedion syndrome Categories: Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. 0011341 Macrotia Large ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more[rarediseases.info.nih.gov]
Lordosis
  • These may be manifested as: Arthritis affecting the fingers, elbow, and spine Loss of bone in the thigh A prominent breastbone Sideways curvature of the spine (scoliosis) Backward curvature of the spine (lordosis) Wing-like appearance of the shoulder[dovemed.com]
  • (scoliosis) Excessive curvature of the lower back (lordosis) Pelvis Deformities in the large bone in the leg/ femur Hands Short and misshapen fingers Feet Flat foot Short toes Nails Thin Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows[nfed.org]
  • […] physical abnormalities including abnormal prominence of the breast bone (pectus carinatum), an unusual “wing-like” shape of the shoulder blades (scapula), abnormal side-to-side curvature of the spine (scoliosis), and/or backward curvature of the spine (lordosis[rarediseases.org]
Winged Scapula
  • ., large, laterally protruding ears, a bulbous nose, an elongated upper lip and sparse scalp hair), winged scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation.[medical-dictionary.thefreedictionary.com]
  • Additional skeletal abnormalities may also be present including thin, narrow ribs; unusual “wing-like” shoulder blades (winged scapula); webbing (syndactyly) of certain fingers and toes; and/or abnormalities of the spinal column including sideways curvature[rarediseases.org]
  • scapulae) Pectus carinatum (keel-shaped deformity of the chest, protrusion abnormalities of the anterior chest wall) Skeletal Delayed bone age before puberty (slow bone growth) Accelerated bone age after puberty Osteopenia (late-onset) (lower than normal[nfed.org]
  • Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and[genecards.org]
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]
Imperforate Hymen
  • hymen and vaginal stenosis. ( 24909397 ) Plaza-Benhumea L....Cuevas-Covarrubias S. 2014 12 Langer-Giedion syndrome: the evolving imaging features in hands and beyond. ( 24072254 ) Tsang W.K....Fong C.M. 2014 13 Prenatal diagnosis of Langer-Giedion Syndrome[malacards.org]
Neonatal Hypotonia
  • Mental retardation, neonatal hypotonia, delayed speech development, hearing loss. Recurrent respiratory infections. Prune-belly sequence. Ureteral reflux, persistent cloaca, congenital nephrotic syndrome. Aplasia of epiglottis may be present.[accessanesthesiology.mhmedical.com]

Workup

Delayed Bone Age
  • bone age before puberty (slow bone growth) Accelerated bone age after puberty Osteopenia (late-onset) (lower than normal bone density) Osteoarthritis (late-onset) Joint pain (late-onset) Spine Spine has a sideways curve.[nfed.org]
  • As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature.[rarediseases.org]

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]
  • 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]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.de]
  • 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

  • […] 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 timing of diagnosis is not only important for choosing appropriate treatment objectives, but also improves the prognosis [ 23 ]. In these cases bone and cement condition are factors to consider in the treatment planning and mechanics.[omicsonline.org]
  • Because of this frequency and the diversity of these conditions, it is essential that the practitioner be able to recognize a fetus, newborn, or child with a skeletal dysplasia so that the diagnosis can be established, the prognosis determined, and a[musculoskeletalkey.com]

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]
  • Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. ( 24357330 ) Cappuccio G....Melis D. 2013 17 An interstitial, apparently-balanced chromosomal insertion in the etiology[malacards.org]
  • (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]
  • Epidemiology Triphalangeal thumbs have an incidence of 1 in 25,000 7. Pathology A triphalangeal thumb, as the name implies, has three phalanges instead of the usual two. There is an autosomal dominant genetic transmission 8.[radiopaedia.org]
  • […] 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 Most skeletal dysplasias are uncommon, and often their exact incidence is unknown.[musculoskeletalkey.com]
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

  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturally.com]
  • STRYVE’s focus on preventing youth violence before it occurs is unique. ... STRYVE, or Striving To Reduce Youth Violence Everywhere, is a Can compensatory growth contribute to reduce the so-called protein gap. ... friedrich.weissmann@vti. bund.de.[berlpdf.com]
  • 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]

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