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22 Possible Causes for Arthrogryposis Multiplex Congenita, Ear Deformity, Folded Helix

  • Congenital Contractural Arachnodactyly

    Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[ncbi.nlm.nih.gov] " deformity.[ncbi.nlm.nih.gov] Both pregnancies presented with clinical features of arthrogryposis multiplex congenita/fetal akinesia syndrome (AMC/FAS), including clenched fists and multiple joint contractures[ncbi.nlm.nih.gov]

  • Ear Deformity

    In the mild form, the helix alone is involved. It can be only a slightly broad rim, but more commonly the helix is flattened or folded along the upper edge.[plasticsurgery4u.com] Abstract The common characteristics of the crumpled-ear deformity, the steps for surgical correction, and the authors' experience are described in this article.[ncbi.nlm.nih.gov] Abstract Arthrogryposis multiplex congenita (AMC) is a rare congenital syndrome consisting of two or more joint contractures in different parts of the body.[ncbi.nlm.nih.gov]

  • Bruck Syndrome

    FKBP65 prevents premature cross-links between procollagen chains and assists proper registration, folding into the collagen triple helix, and subsequent trafficking [19],[journals.plos.org] Autopsy report revealed lung hypoplasia, with abnormal rotation of the forearms and hands, cauliflower appearing ears and lower limb deformities as well as the above findings[ashg.org] multiplex congenita.[ncbi.nlm.nih.gov]

  • Chondrodystrophy

    Glycine, the smallest amino acid, must be in the third position to allow proper chain folding to occur.[ncbi.nlm.nih.gov] […] of the first metacarpus), short stature (the reason why the disease is also called diastrophic dwarfism), characteristic ear deformities and, occasionally, a cleft palate[scielo.br] multiplex congenita ( Q74.3 ) metabolic disorders ( E70-E88 ) myositis ( M60.- ) Primary disorders of muscles Clinical Information A syndrome of short stature; generalized[icd10data.com]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    (outer rim) of ear (over 90%) Incomplete folding of ears Chronic otitis media (ear infections) Hearing loss Mouth and speech [ edit ] Deeply grooved philtrum (top lip line[en.wikipedia.org] ; broad neck with low hairline; and thorax deformity), and abnormal skin and adnexa.[clincancerres.aacrjournals.org] multiplex congenita Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency Giant cell arteritis Granulomatosis with polyangiitis Pediatric systemic lupus erythematosus[csbg.cnb.csic.es]

  • Osteogenesis Imperfecta

    Complex dysfunction leads to delayed folding of the procollagen triple helix and increased helical modification.[ncbi.nlm.nih.gov] Hearing loss may be caused by deformities of the bones of the inner ear as well as pressure on the auditory nerve because of deformity of its canal in the skull .[britannica.com] multiplex congenita).[web.archive.org]

  • Branchio-Oculo-Facial Syndrome

    Over-folded or malformed ears Sensorineural hearing loss Supra-auricular sinuses Limbs Abnormality Clinodactyly Show images Polydactyly Show images Neurologic Abnormality[datagenno.com] […] of both the external and middle ear structures.[ipfs.io] syndromes 404 Management of neurodegenerative metabolic disorders 411 Organellar and miscellaneous neurodegenerative disorders 413 Lysosomal enzyme deficiencies 414 mucopolysaccharidoses[books.google.de]

  • Kaufman Oculocerebrofacial Syndrome

    Ear features include a cup shape with hypoplastic lobe and folded helix, stenosis of the external meatus, and preauricular tags.[jmg.bmj.com] Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Autosomal recessive[rarediseases.info.nih.gov] June 01, 2018 A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.[medscape.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The main distinctive facial features are: -hypertelorism -ptosis -epicanthal folds -downslanted palpebral fissures -broad, high forehead -Low-set, posteriorly rotated ears[flipper.diff.org] […] diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis , bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum , low-set ear[en.wikipedia.org] multiplex congenita Cortical tubers Short philtrum Muscle weakness Migraine Cranial nerve paralysis Cerebral palsy Apathy Hemiplegia/hemiparesis Reduced consciousness/confusion[mendelian.co]

  • Osteogenesis Imperfecta Type 16

    Osteogenesis imperfecta results from mutations in the collagen triple helix, where the individual chains are defective, leading to abnormal folding, and ultimately, abnormal[osapublishing.org] Hearing can be affected by changes in the middle ear. Type II These are often diagnosed prenatally at the 20-week ultrasound.[patient.info] multiplex congenita) due to dislocation of the radial head [ 37, 38 ].[bmcpediatr.biomedcentral.com]

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