Case presentation We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. [ijponline.biomedcentral.com]

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. [casereports.bmj.com]

Additionally, they presented with a receded triangular medio-occipital hairline, which has not been described in TRPS I so far. [jamanetwork.com]

We present the case of a child with two novel and different mutations, not previously reported. 2. Case Presentation A 4-year-old girl was observed in the emergency department after minor nose trauma. [hindawi.com]

• Short Stature

  TRPS III is considered an extreme of the clinical spectrum of TRPS I, with more severe brachydactyly due to short metacarpals, and severe short stature. [ijponline.biomedcentral.com]

  Type III or Sugio-Kanjii Syndrome is characterized by severe shortness of all metacarpals, phalanges and stature without exostoses or mental retardation [ 3 ]. [bmcmedgenet.biomedcentral.com]

  An alteration or deletion in the TRPS1 gene means that normal bone growth is disrupted It is believed that the disturbance caused in the functioning of the TRPS1 gene is the main reason for the short stature, epiphyses abnormalities, and distinctive facial [dovemed.com]

• Poor Growth

  Fig. 1 Patient’s growth charts (WHO growth charts for girls ages 0 to 5 years of age). a Length-for-age chart. b Weight-for-age chart Full size image Because of the poor growth the patient underwent several medical assessments. [ijponline.biomedcentral.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]

• Snoring

  She was born from young, healthy, and nonconsanguineous parents and had an unremarkable personal history, except for chronic nasal obstruction and snoring. [hindawi.com]

• Lordosis

  (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]

  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]

  […] 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

  scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation. [medical-dictionary.thefreedictionary.com]

  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]

  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]

  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]

• 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 [medlineplus.gov]

  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]

  ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short distal phalanx of finger Short outermost finger bone 0009882 Short metacarpal Shortened long bone [rarediseases.info.nih.gov]

  Facial characteristics of the syndrome include a rounded nose, long, flat philtrum, a thin and long upper lip, large ears, small lower jaw, thin eyebrows, sparse eyelashes, a triangular face and a short stature. [fdna.health]

• 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]

  Physical examination shows sparse, fine hair, and diffuse or patchy alopecia [8, 15]. [karger.com]

  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]

• Thin Eyebrows

  (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]

  Limited hair on end of eyebrow 0005338 Swelling of proximal interphalangeal joints 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 [rarediseases.info.nih.gov]

  Facial characteristics of the syndrome include a rounded nose, long, flat philtrum, a thin and long upper lip, large ears, small lower jaw, thin eyebrows, sparse eyelashes, a triangular face and a short stature. [fdna.health]

  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]

• 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]

• Delayed Bone Age

  […] 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 bone density) Osteoarthritis (late-onset) Joint pain (late-onset) Spine Spine has a [nfed.org]

  In rare cases, affected individuals may also have an abnormally short forearm bone (ulna) and/or flat feet (pes planus). As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature. [rarediseases.org]

The appropriate advancement of bone age during treatment suggests that his final height will not be adversely affected with GH treatment. [ijpeonline.biomedcentral.com]

Standard Therapies Treatment The treatment of TRPS1 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]

[…] support during the treatment tenure Coordination with a rehabilitation team consisting of professionals with special knowledge may be required for children with Trichorhinophalangeal Syndrome Type I. [dovemed.com]

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]

[…] 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 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]

The etiology is heterogeneous, highly variable and most of the cases are idiopathic. [ncbi.nlm.nih.gov]

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]

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]

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]

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. ... [email protected] 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]