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2,033 Possible Causes for Epidermolysis Bullosa, Fusion of Metacarpal Bones, Syndactyly Does Not Occur

  • Cenani Syndactylism

    It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and[uniprot.org] In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.[en.academic.ru] bullosa with pyloric atresia EDAR ( EDAR Hypohidrotic ectodermal dysplasia ) · PTCH1 ( Nevoid basal cell carcinoma syndrome ) · BMPR1A ( BMPR1A Juvenile polyposis syndrome[dictionary.sensagent.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: Fusion of Metacarpal Bones
  • Thickened Earlobes-Conductive Deafness Syndrome

    Abnormal tubulation of metacarpals especially 1 st on minimal oblique orientation of 2 nd metcarpal and fusion wl coma shaped like trapezoid, cone shaped epiphysis of the[ispub.com] bullosa simplex, Cockayne-Touraine type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa, dermolytic Epidermolysis[bioreference.net] Epidermolysis bullosa simplex, Koebner type[?] Epidermolysis bullosa simplex, Ogna type[?] Epidermolysis bullosa, dermolytic[?][encyclopedia.kids.net.au]

    Missing: Syndactyly Does Not Occur
  • Syndactyly

    It is usually not associated with bone fusion. Type V syndactyly is rare when compared to other forms of syndactyly.[symptoma.com] This condition does not have a notable cause and may occur in isolation or is inherited.[epainassist.com] Secondary syndactyly, also called "pseudosyndactyly", is rare and can be a complication of burns, dystrophic epidermolysis bullosa or trauma.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Nail Dysplasia

    (a) Radiographs of the hands show modeling defect of the metacarpal bones and complex fusion anomaly of the individual bones of the hands.[iofbonehealth.org] Hemidesmosomal epidermolysis bullosa (HEB) produces blistering at the hemidesmosomal level in the most superior aspect of the basement membrane zone. [ 4 ] Epidermolysis bullosa[patient.info] Type Epidermolysis Bullosa Pruriginosa Epidermolysis Bullosa Simplex, Generalized Epidermolysis Bullosa Simplex With Mottled Pigmentation Epidermolysis Bullosa Simplex With[familydiagnosis.com]

    Missing: Syndactyly Does Not Occur
  • Apert Syndrome

    Hands and Feet: Fusion of distal portions of phalanges, metacarpals and carpals of 2nd, 3rd and 4th digit ( Syndactyly ). Absence of middle phalanges.[fetalultrasound.com] Unlike Apert syndrome, however, PS does not generally cause syndactyly of the hands.[forgottendiseases.org] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

  • Bloch Sulzberger Syndrome

    bones bifid rib or other rib abnormality (fusion, partial agenesis, etc.) palmar and plantar pitting: defects of basal cell maturation neoplasms/hamartomas medulloblastoma[radiopaedia.org] bullosa Q81.0 Epidermolysis bullosa simplex Q81.1 Epidermolysis bullosa letalis Q81.2 Epidermolysis bullosa dystrophica Q81.8 Other epidermolysis bullosa Q81.9 Epidermolysis[icd10data.com] Differential diagnosis Stage I may be misdiagnosed as bullous impetigo, inherited epidermolysis bullosa, herpes or varicella.[orpha.net]

    Missing: Syndactyly Does Not Occur
  • Hereditary Renal Cell Carcinoma

    Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa.[ghr.nlm.nih.gov] On DermNet NZ Epidermolysis bullosa simplex Junctional epidermolysis bullosa Dystrophic epidermolysis bullosa Kindler syndrome Epidermolysis bullosa pruriginosa Epidermolysis[dermnetnz.org] Dystrophic epidermolysis bullosa.[mayoclinic.org]

    Missing: Fusion of Metacarpal Bones Syndactyly Does Not Occur
  • Saldino-Noonan Syndrome

    […] centre, clinodactyly of the 5 th finger, fusion of the 5 th and 6 th metacarpals, disturbance in bone modeling of the metacarpals and/or phalanges.[ojrd.biomedcentral.com] Scand J Dent Res 86:58–66 Google Scholar Arwill T, Bergenholtz A, Olsson O (1965) Epidermolysis bullosa hereditaria. III.[link.springer.com] […] and capitate bones of the wrist, defect of the lateral aspect of the proximal part of the tibia (knock-knees), cubitus valgus, hypoplastic cubitus, supernumerary carpal bone[ojrd.biomedcentral.com]

    Missing: Syndactyly Does Not Occur
  • Congenital Muscular Dystrophy

    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] A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996 Nov 15. 98(10):2196-200.[emedicine.medscape.com]

    Missing: Fusion of Metacarpal Bones Syndactyly Does Not Occur

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