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4,107 Possible Causes for Congenital Onset, Epidermolysis Bullosa, Syndactyly Does Not Occur

  • Herlitz Disease

    Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome with periventricular heterotopia Frontometaphyseal[csbg.cnb.csic.es] What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related?[counsyl.com] Melanoma, cutaneous malignant, 2},155601 CDSN25.50.630.46Hypotrichosis 2146520 CDSN25.50.630.46Peeling skin syndrome 1270300 CECR1111.60.990.98Polyarteritis nodosa, childhood-onset[qgenomics.com]

  • Transient Bullous Dermolysis of the Newborn

    onset Symptoms present at birth 0003577 Fragile skin Skin fragility 0001030 Showing of 11 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often[rarediseases.info.nih.gov] Martin Carter Springer Science & Business Media, ٠٦‏/١٢‏/٢٠١٢ - 302 من الصفحات Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients[books.google.com] […] type epidermolysis bullosa simplex, Epidermolysis bullosa simplex, Weber-Cockayne type, Epidermolysis bullosa simplex of palms and soles, Epidermolysis bullosa of hands and[rarediseases.info.nih.gov]

    Missing: Syndactyly Does Not Occur
  • Generalized Peeling Skin Syndrome

    Onset is congenital or before 6 years of age.[idoj.in] Due to frequent occurrence of misdiagnosis between APSS and epidermolysis bullosa simplex, clinical and genetic aspects of both diseases are discussed.[termedia.pl] onset in the neonatal period and infancy.[homeremedies9.com]

    Missing: Syndactyly Does Not Occur
  • Autosomal Recessive Primary Microcephaly Type 10

    onset Dilation of lateral ventricles Flexion contracture Hypertrophic cardiomyopathy Abnormality of the dentition Atrial septal defect Feeding difficulties Cryptorchidism[mendelian.co] Epidermolysis bullosa of hands and feet,131800 COL7A1 Epidermolysis bullosa pruriginosa,604129 PLEC Epidermolysis bullosa simples with muscular dystrophy,226670 PLEC Epidermolysis[gsdseq.ir] onset Cerebral atrophy Acidosis Progressive microcephaly Myopathy Hyperreflexia Optic atrophy Cerebral cortical atrophy Intellectual disability Hypoplasia of the pons Severe[mendelian.co]

    Missing: Syndactyly Does Not Occur
  • Congenital Muscular Dystrophy

    Early onset in infancy has been described in these muscular dystrophies. Reported here is a 7-year-old male with congenital muscular dystrophy.[ncbi.nlm.nih.gov] Abstract Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD).[ncbi.nlm.nih.gov] Patients CMD with familial junctional epidermolysis bullosa often have brain atrophy and enlarged ventricles on MRI.[emedicine.medscape.com]

    Missing: Syndactyly Does Not Occur
  • Erythropoietic Porphyria

    These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.[ncbi.nlm.nih.gov] The skin biopsy findings were consistent with epidermolysis bullosa.[ncbi.nlm.nih.gov] A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.[meajo.org]

    Missing: Syndactyly Does Not Occur
  • Cenani Syndactylism

    In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.[en.academic.ru] […] thrombocytopenia Aplasia cutis congenita Bilateral camptodactyly Megakaryocyte dysplasia Milia Congenital onset Carious teeth Nail dystrophy Sepsis Nail dysplasia Abnormal[mendelian.co] bullosa with pyloric atresia EDAR ( EDAR Hypohidrotic ectodermal dysplasia ) · PTCH1 ( Nevoid basal cell carcinoma syndrome ) · BMPR1A ( BMPR1A Juvenile polyposis syndrome[dictionary.sensagent.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    onset Symptoms present at birth 0003577 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech[rarediseases.info.nih.gov] Bullosa Dystrophica Epidermolysis Bullosa Dystrophica, Localisata Variant Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex, Ogna Type Epidermolysis Bullosa with[sequencing.com] , teenage onset, cerebellar atrophy [ 65 ] SCAR13 GRM1 614831 Cognitive impairment, mild pyramidal signs, short stature, seizures, congenital onset, cerebellar atrophy [ 66[cerebellumandataxias.biomedcentral.com]

    Missing: Syndactyly Does Not Occur
  • Autosomal Recessive Pachydermoperiostosis 

    Osteoporosis [25] Rheumatoid arthritis [31] Ankylosing spondylitis [32] En coup de sabre (a form of localized scleroderma) [33] In certain instances, several years after the onset[emedicine.medscape.com] , oral mucosal involvement Epidermolysis bullosa dystrophica Epidermolysis bullosa letalis Epidermolysis bullosa pruriginosa Epidermolysis bullosa simplex Epidermolysis bullosa[icd9data.com] Its onset occurs later, without familial or hereditary occurrence, and its bone changes are more acute and painful. Radiographic findings present certain differences.[sboportal.org.br]

    Missing: Syndactyly Does Not Occur
  • Shaheen Syndrome

    , 5 21 737 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21 738 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 739 c SLV006[malacards.org] , AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION Ataxia-Microcephaly-Cataract Syndrome Atonic-Astatic Syndrome of Foerster Aural Atresia, Multiple Congenital[rgd.mcw.edu] Rapp-Hodgkin Syndrome 49 650 SLD003 Sialadenitis 49 651 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 48 652 P KLF001 Kleefstra Syndrome 46 653 ACR013 Acrodysostosis[malacards.org]

    Missing: Syndactyly Does Not Occur

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