Create issue ticket

2,469 Possible Causes for Dysmorphic Face, Epidermolysis Bullosa, Syndactyly Does Not Occur

  • Congenital Muscular Dystrophy

    In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org] 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
  • Robinow Syndrome

    Partial cutaneous syndactyly occurs in the hands and feet, but does not produce a consistent pattern.[jmg.bmjjournals.com] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

  • Saethre-Chotzen Syndrome

    Unlike SCS syndrome, however, PS does not generally cause syndactyly of the hands. This clinical feature can help distinguish the two conditions (6, 7).[forgottendiseases.org] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] bullosa:栄養障害性表皮水疱症 Junctional epidermolysis bullosa:接合部型表皮水疱症 Juvenile hyaline fibromatosis:若年性ヒアリン線維腫症 Spinal muscular atrophy with respiratory distress 1:脊髄性筋萎縮症1 呼吸困難[mondomedi.com]

  • Herlitz Disease

    What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related?[counsyl.com] 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] These findings supported a diagnosis of junctional epidermolysis bullosa. The patient was treated with topical and systemic antibiotics.[ncbi.nlm.nih.gov]

    Missing: Dysmorphic Face
  • Marchesani-Weill Syndrome

    bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome[en.wikipedia.org] […] pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa[ipfs.io] […] of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10[en.wikipedia.org]

    Missing: Syndactyly Does Not Occur
  • Cockayne Syndrome

    Epidermolysis bullosa hereditaria.[dovemed.com] Web·er-Cock·ayne syn·drome ( web'ĕr-kok-ān' sin'drōm ) A form of epidermolysis bullosa with only the hands and feet affected.[medical-dictionary.thefreedictionary.com] There are many forms of Epidermolysis Bullosa There is also no cure for EB.[dovemed.com]

    Missing: Syndactyly Does Not Occur
  • Laron Syndrome

    The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com] bullosa with pyloric atresia EDAR (EDAR hypohidrotic ectodermal dysplasia) PTCH1 (Nevoid basal-cell carcinoma syndrome) BMPR1A (BMPR1A juvenile polyposis syndrome) IL2RG[en.wikipedia.org] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[ipfs.io]

    Missing: Syndactyly Does Not Occur
  • Marfan Syndrome

    bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin: Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome[en.wikipedia.org] […] hyperkeratosis) KRT12 (Meesmann juvenile epithelial corneal dystrophy) KRT13 (White sponge nevus) KRT14 (Epidermolysis bullosa simplex) KRT17 (Steatocystoma multiplex) KRT18[en.wikipedia.org] […] of Siemens) KRT3 (Meesmann juvenile epithelial corneal dystrophy) KRT4 (White sponge nevus) KRT5 (Epidermolysis bullosa simplex) KRT8 (Familial cirrhosis) KRT10 (Epidermolytic[en.wikipedia.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] A recent report suggested midfacial dysmorphism i in two patients with CLS ().[kabukisyndrome.com] bullosa with pyloric atresia EDAR ( EDAR Hypohidrotic ectodermal dysplasia ) · PTCH1 ( Nevoid basal cell carcinoma syndrome ) · BMPR1A ( BMPR1A Juvenile polyposis syndrome[dictionary.sensagent.com]

  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] , oral mucosal involvement Epidermolysis bullosa dystrophica Epidermolysis bullosa letalis Epidermolysis bullosa pruriginosa Epidermolysis bullosa simplex Epidermolysis bullosa[icd9data.com] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[dermatologyadvisor.com]

    Missing: Syndactyly Does Not Occur

Similar symptoms