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Facioauriculoradial Dysplasia

Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome


Presentation

  • […] branchial arches. [1], [2] In approximately 5 to 15% of the cases, mild mental retardation may also be present.[jfmpc.com]
  • All ears with microtia (20 ears) had hearing loss: four (20%) presented conductive hearing loss; six (30%) presented mixed hearing loss; eight (40%) presented sensorioneural hearing loss.[nature.com]
  • Some tissue(s) of the eye may fail to close, presenting as a notch (coloboma) of varying size. In about one-third of cases, the patient presents with a cyst on the eye (dermoids cyst).[rarediseases.org]
  • Our present patient presented with minimal facial features, but with profound limb defects of preaxial radial ray-thumb aplasia entity. Autosomal recessive pattern of inheritance was suggested in connection with parental consanguinity.[link.springer.com]
Short Stature
  • stature Skeletal Limbs: elbow dislocation radioulnar synostosis shoulder dislocation absent radius mesomelic arm shortening more Head And Neck Eyes: downslanting palpebral fissures Cardiovascular Heart: sinus arrhythmia Skeletal Hands: hypoplastic to[malacards.org]
  • stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI ([mousephenotype.org]
  • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.[mendelian.co]
  • Congenital radio-ulnar synostosis Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome Radio-ulnar synostosis in Williams syndrome Mutations[documentslide.com]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.de]
  • Treacher Collins Syndrome NORD Guides for Physicians #12 The National Organization for Rare Disorders The Physician s Guide to Treacher Collins Syndrome For more information about NORD s programs and services, contact: National More information Craniofacial[docplayer.net]
  • Such specialists may include pediatricians; physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists); eye specialists (ophthalmologists); neurologists; heart (cardiologists) and/or lung (cardiothoracic) surgeons; physicians[rarediseases.org]
Heart Disease
  • Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.[books.google.com]
  • Radial hypoplasia may be seen with certain congenital heart diseases; renal anomalies; esophageal, duodenal, or anal atresia; rib anomalies; Klippel-Feil S.; kyphoscoliosis; and hypoplasia or spina bifida of the lumbosacral spine.[gamuts.isradiology.org]
Hearing Impairment
  • impairment ; Congenital earlobe sinuses ; Downslanted palpebral fissures ; Elbow dislocation ; Fibular hypoplasia ; Genu varum ; Lateral clavicle hook ; Long clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface[mousephenotype.org]
  • 80%) HP:0008551 2 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675 3 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343 4 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105 5 conductive hearing[malacards.org]
  • In addition, hearing impairment and mild psychomotor delay have also been reported.[mendelian.co]
  • impairment Brachydactyly Finger syndactyly SOURCES [mendelian.co] Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome […] and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length. [[symptoma.com]
Hearing Impairment
  • impairment ; Congenital earlobe sinuses ; Downslanted palpebral fissures ; Elbow dislocation ; Fibular hypoplasia ; Genu varum ; Lateral clavicle hook ; Long clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface[mousephenotype.org]
  • 80%) HP:0008551 2 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675 3 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343 4 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105 5 conductive hearing[malacards.org]
  • In addition, hearing impairment and mild psychomotor delay have also been reported.[mendelian.co]
  • impairment Brachydactyly Finger syndactyly SOURCES [mendelian.co] Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome […] and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length. [[symptoma.com]
Ear Deformity
  • deformity is described in a mother and her daughter.[jmg.bmj.com]
  • Abstract A syndrome characterised by asymmetrical radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity is described in a mother and her daughter.[ncbi.nlm.nih.gov]
  • Harding et al. (1982) described mother and daughter with radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity. The facial appearance of the mother suggested mild maxillary hypoplasia.[omim.org]
  • […] micrognathia 601348 Sporadic Congenital heart disease, micrognathia Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 225280 AR Ectodermal dysplasia, macular dystrophy Facioauriculoradial dysplasia 171480 AD Radial, ulnar hypoplasia, ear[docksci.com]
Dysplastic Ears
  • At birth a near normal facies but with bilaterally dysplastic ears, associated with profound shortening of the upper limbs and a unilateral lower limb defects were present.[link.springer.com]
Skeletal Dysplasia
  • Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.[books.google.com]
  • Skeletal dysplasias: group of complex and heterogeneous disorders that affect bone development and growth, resulting in alterations of bone size, shape, density and/or integrity.[obgyn.mhmedical.com]
  • FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects.[mendelian.co]
Joint Dislocation
  • DISLOCATIONS, GPAPP TYPE Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia[mendelian.co]
  • AD Cleft lip/palate Rapadilino syndrome 266280 AR Patellar hypoplasia, joint dislocations, infantile diarrhea, short stature Richieri-Costa-Pereira syndrome 268305 AR Robin sequence, cleft mandible, hallux hypoplasia, may have ulnar, tibial, fibular hypoplasia[docksci.com]
Short Humerus
  • humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC[mousephenotype.org]
  • humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006420 21 short 2nd metacarpal[malacards.org]
Short Humerus
  • humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC[mousephenotype.org]
  • humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006420 21 short 2nd metacarpal[malacards.org]

Workup

Sinus Arrhythmia
  • MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia: Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 57 Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 59[malacards.org]
  • Preferred Name Stoll Levy Francfort syndrome Synonyms Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia ID altLabel Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia Facioauriculoradial dysplasia cui C1868390[purl.bioontology.org]
  • […] maxillary hypoplasia) and sinus arrhythmia.[monarchinitiative.org]
  • Name Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia Synonyms FACIOAURICULORADIAL DYSPLASIA Classification bone, developmental, genetic, otorhinolaryngological Phenotypes Absent radius ; Anterior vertebral fusion ; Aplasia/Hypoplasia[mousephenotype.org]
  • The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination.[omim.org]
Sinus Arrhythmia
  • MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia: Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 57 Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 59[malacards.org]
  • Preferred Name Stoll Levy Francfort syndrome Synonyms Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia ID altLabel Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia Facioauriculoradial dysplasia cui C1868390[purl.bioontology.org]
  • […] maxillary hypoplasia) and sinus arrhythmia.[monarchinitiative.org]
  • Name Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia Synonyms FACIOAURICULORADIAL DYSPLASIA Classification bone, developmental, genetic, otorhinolaryngological Phenotypes Absent radius ; Anterior vertebral fusion ; Aplasia/Hypoplasia[mousephenotype.org]
  • The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination.[omim.org]

Treatment

  • Standard Therapies Treatment The treatment of OAVS is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]
  • The aim of this study was to compare the results of the intramedullary nail and locking compression plate for the treatment of humeral shaft fractures.[readbyqxmd.com]
  • […] income (AOR 1.83, 95% CI 1.51-2.23), any history of antiretroviral therapy (AOR 1.78, 95% CI 1.38-2.29), retention in HIV care (AOR 1.36, 95% CI 1.04-1.77), a history of sexually transmitted diseases (AOR 1.96, 95% CI 1.50-2.56), and any history of treatment[pubpharm.de]
  • Without treatment, this defect is usually fatal within the first weeks More information THE EYES IN CHARGE: FOR THE OPHTHALMOLOGIST Roberta A. Pagon, M.D.[docplayer.net]
  • : Archivos Argentinos de Pediatría # 103 Baobiao Zhuo, Hongwei Zhang, Yiyu Yin, Tongsheng Ma, Fengli Liu, Hui Cao, Huaxin Zou OBJECTIVE: To explore the value of rectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch in the treatment[read.qxmd.com]

Etiology

  • Case report and etiologic considerations. Am J Ophthalmol. 1971 Sep; 72 (3):618–621. [ PubMed ] [ Google Scholar ] Proto F, Scullica L. Contributo allo studio della ereditarietà dei dermoidi epibulbari.[ncbi.nlm.nih.gov]
  • Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor.[read.qxmd.com]
  • The etiology is not known, but various theories suggest that exposure to viruses during pregnancy, abnormal vascular supply to the first arch, and abnormality of mesoblastic development are reponsible.[jfmpc.com]
  • J Pediatr 1963; 63 : 991–999. 12 Mandelcorn MS, Merin S, Cardarelli J : Goldenhar's syndrome and phocomelia Case report and etiologic considerations.[nature.com]
  • Am J Med Genet 2001; 98:210-5 Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD.A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 1983; 71:815-20 Kim JH, Kim PCW, Hui C.[rrnursingschool.biz]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • […] a Papanicolaou Test 6 D065006 a *statistics & numerical data 6 Q000706 653 2 a Population Surveillance 6 D011159 653 2 a Prevalence 6 D015995 653 2 a Retrospective Studies 6 D012189 653 2 a Socioeconomic Factors 6 D012959 653 2 a Taiwan 6 D013624 a epidemiology[pubpharm.de]
Sex distribution
Age distribution

Pathophysiology

  • The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There More information Genetic and Developmental Diseases Genetic and Developmental Diseases Course Pathophysiology Unit VII Pathology Across the[docplayer.net]

Prevention

  • 653 2 a Prevalence 6 D015995 653 2 a Retrospective Studies 6 D012189 653 2 a Socioeconomic Factors 6 D012959 653 2 a Taiwan 6 D013624 a epidemiology 6 Q000453 653 2 a Uterine Cervical Neoplasms 6 D002583 a *diagnosis 6 Q000175 a ethnology 6 Q000208 a prevention[pubpharm.de]
  • Instead of polyethylene bivalve functional brace four plaster sleeves wrapped and molded with little more proximal extension expected to prevent nonunion of proximal third fractures.[readbyqxmd.com]
  • The father of the pro- posita and her paternal grandfather (36 and 70 yearsold, respectively) had severe radio-ulnar synostosiswhich prevented supination and pronation. Both mentended to keep their forearms flexed with the palms fac-ing each other.[docslide.net]

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