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Thoracomelic Dysplasia

Rivera-Perez-Salas Syndrome


Presentation

  • No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.[rarediseases.info.nih.gov]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • Rapidly progressive glomerulonephritis (RPGN): (Usually presents as a nephritic syndrome) A patient's glomeruli are present in a crescent moon shape.[en.wikipedia.org]
  • Because of the wealth of scientific and clinical information presented at ATS 2014, these diseases, though uncommon, will be the focus of many presentations during the next several days.[docmh.com]
  • A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent ( Silverman, 1985 ).[mendelian.co]
Short Stature
  • Orpha Number: 1803 Disease definition Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal[rarediseases.info.nih.gov]
  • stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873 16 limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009826 17 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368 18 abnormality of the fibula 59 Very frequent[malacards.org]
  • Diseases related with Short stature and Flat face In the following list you will find some of the most common rare diseases related to Short stature and Flat face that can help you solving undiagnosed cases.[mendelian.co]
  • […] type Short stature, Brussels type Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Shwachman-Diamond syndrome Silver-Russell syndrome Silver-Russell[se-atlas.de]
  • May 1, 2017 By Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities.[checkrare.com]
Fishing
  • Caborrojeños pro Salud y Ambiente along with United States Fish and Wildlife Service were the primary promoters of a research and visitors center located at the Cabo Rojo salt mines .[en.wikipedia.org]
  • (B) FISH angels showing maternal (mat), proband (prob), and paternal (pat) contributions forchromosome 22).[docslide.com.br]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Progressive Polyneuropathy
  • Polyneuropathy Type); THMD4 OMIM:614458 Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type); THMD5 OMIM:249270 Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA OMIM:165700 Thiemann Disease OMIM:610460 Thiopurines, Poor Metabolism[informatics.jax.org]
Sputum
  • The sputum smear was positive for acid-fast bacilli and sputum PCR examination was positive for M. intracellulare. She was diagnosed as the recurrence of non-tuberculous mycobacterium (NTM) infection and treatment of NTM infection was started.[ci.nii.ac.jp]
Genu Valgum
  • valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857 11 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042 12 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307 13 diaphyseal thickening 59 32 hallmark[malacards.org]
  • valgum Knock knees 0002857 Hyperlordosis Prominent swayback 0003307 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Limb undergrowth limb shortening Short limb Short limbs [ more ] 0009826 Low posterior hairline Low hairline[rarediseases.info.nih.gov]
  • valgum Uncommon - Between 30% and 50% cases Micrognathia Uncommon - Between 30% and 50% cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Hearing impairment Uncommon - Between 30% and 50% cases Myopia Uncommon - Between 30% and[mendelian.co]
  • Tcp10b; TCP10B OMIM:186890 Tear Protein, Anodal OMIM:272950 Teebi-Shaltout Syndrome; TBSH OMIM:272980 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair OMIM:273000 Teeth, Fused OMIM:273050 Teeth, Noneruption of, with Maxillary Hypoplasia and Genu[informatics.jax.org]
  • VALGUM 273120 : TERATOMA, PINEAL 273150 : TESTES, RUDIMENTARY 273250 : TESTICULAR REGRESSION SYNDROME; TRS 273390 : TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES 273400 : TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED[www5.geometry.net]
Skeletal Dysplasia
  • dysplasia Wrinkly skin syndrome X-linked calvarial hyperostosis X-linked dominant chondrodysplasia punctata X-linked hypophosphatemia X-linked osteoporosis with fractures X-linked skeletal dysplasia-intellectual disability syndrome X-linked spondyloepimetaphyseal[se-atlas.de]
  • dysplasia h Page 263 and 264: monochromatic type Ubiquinone Oxydo[yumpu.com]
  • DYSPLASIA, SAN DIEGO TYPE 270240 : SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS 270350 : SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL 270420 : SODIUM DIARRHEA, CONGENITAL 270425 : SODIUM-POTASSIUM-ATPase ACTIVITY OF RED[www5.geometry.net]
Narrow Chest
  • chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774 5 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944 6 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288 7 bell-shaped thorax 59 32 hallmark[malacards.org]
  • chest Low chest circumference Narrow shoulders [ more ] 0000774 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short ribs 0000773 5%-29% of people have these symptoms Gait disturbance Abnormal gait Abnormal walk[rarediseases.info.nih.gov]
  • chest Short nose Macrocephaly Platyspondyly Cataract Epiphyseal dysplasia Retinal detachment Rare Symptoms - Less than 30% cases Abdominal distention Femoral hernia Brachydactyly Narrow mouth Abnormal enchondral ossification Lethal skeletal dysplasia[mendelian.co]
Joint Dislocation
  • dislocations, gPAPP type Chondrodysplasia-disorder of sex development syndrome Chondroectodermal dysplasia with night blindness Ciliopathies with major skeletal involvement Cleidocranial dysplasia Cleidocranial dysplasia and isolated cranial ossification[se-atlas.de]
  • dislocation Retinopathy Posterior rib cupping Protuberances at ends of long bones Cellular immunodeficiency Neonatal short-limb short stature Breech presentation Disproportionate short stature Stillbirth Short ribs Abnormality of the ribs Inguinal hernia[mendelian.co]
Lordosis
  • DYSPLASIA, MATRILIN-3 RELATED Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis[mendelian.co]
  • She exhibitedrapid, shallow respiratory excursions with subcostal retractionsand opisthotonic posturing with a fixed lordosis. She fixed andfollowed with no focal neurologic defects.[docslide.com.br]
Short Neck
  • neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470 3 short ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000773 4 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774 5 abnormality of the metaphysis 59 32 hallmark (90%)[malacards.org]
  • Narrow shoulders [ more ] 0000774 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short ribs 0000773 5%-29% of people have these symptoms Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Short[rarediseases.info.nih.gov]
  • ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type Related symptoms: Micrognathia Macrocephaly Short neck Frontal bossing Anteverted nares SOURCES: ORPHANET More info about ACHONDROGENESIS TYPE 2 Medium match ICF SYNDROME The[mendelian.co]
  • Other abnormalitiesincluded short neck, broad chest with severe pectus excavatum(Fig. 1B), contractures of fingers 24, dimples over then-tribslecular Pathology 80 (2006) 197200Fig. 1.[docslide.com.br]
Round Face
  • face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311 2 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470 3 short ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000773 4 narrow chest 59 32 hallmark (90%) Very frequent (99-80%[malacards.org]
  • […] move beyond expected range of motion 0005692 Limb undergrowth limb shortening Short limb Short limbs [ more ] 0009826 Low posterior hairline Low hairline at back of neck 0002162 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Round[rarediseases.info.nih.gov]
  • face Short palm Conductive hearing impairment Spondyloepimetaphyseal dysplasia Enlarged joints Narrow iliac wings Hypoplastic pubic bone Dysplastic iliac wings Nystagmus Kyphosis Metaphyseal spurs Juvenile onset Scapular exostoses Rib exostoses Pelvic[mendelian.co]
  • […] contractural arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round[se-atlas.de]
Abnormal Gait
  • gait Abnormal walk Impaired gait [ more ] 0001288 Short neck Decreased length of neck 0000470 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Showing of 19 Last updated: 5/1/2019 If you need[rarediseases.info.nih.gov]

Workup

Mycobacterium Fortuitum
  • fortuitum 感染症の1例 萩原 恵里, 関根 朗雅, 佐藤 友英, 馬場 智尚, 篠原 岳, 遠藤 高広, 十河 容子, 西平 隆一, 小松 茂, 松本 裕, 小倉 高志, 高橋 宏 医中誌Web 参考文献9件 被引用文献4件 6 Mycobacterium fortuitum による肺感染症の臨床的検討 萩原 恵里, 関根 朗雅, 佐藤 友英, 馬場 智尚, 篠原 岳, 遠藤 高広, 十河 容子, 西平 隆一, 小松 茂, 松本 裕, 小倉 高志, 高橋 宏 医中誌Web 参考文献11[ci.nii.ac.jp]
Mycobacterium Avium Complex
  • Since pneumothorax is an extremely rare complication in NTM infections we thought it is worthwhile to report our case. 5 肺炎および胸膜炎にて発症した非結核性抗酸菌症の1例 斉藤 美和子, 新妻 一直 医中誌Web 参考文献8件 被引用文献2件 6 右胸水で発症したMycobacterium avium Complex 症の1例 川本 仁, 山肩 満徳, 中島 英勝, 神辺 真之[ci.nii.ac.jp]
Torsades De Pointes
  • De Pointes, Short-Coupled Variant OMIM:602554 Torsion Dystonia with Onset in Infancy OMIM:189600 Torticollis OMIM:314300 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia; TKCR OMIM:189700 Torus Palatinus and Torus Mandibularis OMIM:106700 Total[informatics.jax.org]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Treatment [ edit ] The treatment of nephrotic syndrome can be symptomatic or can directly address the injuries caused to the kidney.[en.wikipedia.org]
  • B110: COPD Galore: New Insights into Bronchitis and Emphysema Development and Treatment B110: COPD Galore: New Insights into Bronchitis and Emphysema Development and Treatment B110: COPD Galore: New Insights Into Bronchitis and Emphysema Development[docmh.com]
  • She was diagnosed as the recurrence of non-tuberculous mycobacterium (NTM) infection and treatment of NTM infection was started. No other infections were suspected and the pneumothorax and pleural effusion gradually improved with the treatment.[ci.nii.ac.jp]

Prognosis

  • Prognosis [ edit ] The prognosis for nephrotic syndrome under treatment is generally good although this depends on the underlying cause, the age of the patient and their response to treatment.[en.wikipedia.org]

Epidemiology

  • Linguistic Variant - Portuguese, Brazil) 2015AB LNC-RU-RU (LOINC Linguistic Variant - Russian, Russia) 2015AB LNC-TR-TR (LOINC Linguistic Variant - Turkish, Turkey) 2015AB LNC-ZH-CN (LOINC Linguistic Variant - Chinese, China) 2015AB MCM (Glossary of Clinical Epidemiologic[doctor.am]
  • Injury II Area E; Hall A-B (Upper Level); P1090 9:30 am - 4:15 pm A4456 Frequencies of Alpha-1 Antitrypsin Deficiency Phenotypes Detected Using a Clinical Testing Strategy that Reflexes to Next-Generation Sequencing C45: Across the Universe of COPD Epidemiology[docmh.com]
  • epidemiological data also reveals information regarding the most common way that symptoms develop in patients with nephrotic syndrome: [55] spontaneous remission occurs in up to 20% or 30% of cases during the first year of the illness.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • MCD) [23] Drugs, especially NSAIDs in the elderly Malignancy, especially Hodgkin's lymphoma Allergy Bee sting Membranoproliferative Glomerulonephritis Hepatitis C Genetics [ edit ] Over 50 mutations are known to be associated with this condition. [25] Pathophysiology[en.wikipedia.org]

Prevention

  • NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications[doctor.am]
  • With this guide, we invite health care professionals and patients interested in rare lung diseases to learn about the discoveries being presented during ATS 2015 that may change how we prevent or treat these diseases in the future and how this new knowledge[docmh.com]
  • […] material within cells) that allows proteins such as albumin, antithrombin or the immunoglobulins to pass through the cell membrane and appear in urine. [14] Albumin is the main protein in the blood that is able to maintain an oncotic pressure, which prevents[en.wikipedia.org]

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