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13 Possible Causes for Epidermolysis Bullosa, Skeletal Dysplasia, Syndactyly Does Not Occur

  • Herlitz Disease

    dysplasia (e.g. sphenoid or long bone dysplasia) - Affected first degree relative At what age do most patient's meet NF-1 criteria?[studyblue.com] What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related?[counsyl.com] dysplasia 215140 Pelger-Huet anomaly 169400 LEPRE1 1p34.2 Osteogenesis imperfecta, type VIII 610915 LHCGR 2p16.3 Leydig cell adenoma, somatic, with precocious puberty 176410[institutobernabeu.com]

  • Robinow Syndrome

    Rob·i·now syn·drome ( rob'i-now ), [MIM*180700] a skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), wide[medical-dictionary.thefreedictionary.com] Partial cutaneous syndactyly occurs in the hands and feet, but does not produce a consistent pattern.[jmg.bmjjournals.com] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

  • Cenani Syndactylism

    Lethal Type Hem Skeletal Dysplasia Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Moth-Eaten Skeletal Dysplasia GRBGD 215140 Genetic Test Registry Greig Cephalopolysyndactyly[ukgtn.nhs.uk] 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]

  • Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth

    […] joint contractures and facial skeletal dysplasia * Camptodactyly syndrome Guadalajara type 1 * Camptodactyly syndrome Guadalajara type 2 * Camptodactyly taurinuria * Camptodactyly[medicalgeek.com] Postaxial polydactyly of the feet does occur, as does (partial) syndactyly of the second and third toes or third and fourth fingers.[docplayer.net] bullosa H00584 Epidermolysis bullosa simplex H00585 Epidermolysis bullosa, hemidesmosomal H00586 Epidermolysis bullosa, junctional [PATH: hsa04510 hsa04512 hsa04514 hsa04810[genome.jp]

  • Apert Syndrome

    The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias[ncbi.nlm.nih.gov] 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]

  • Amniotic Band

    dysplasia The term special needs can sound scary.[nohandsbutours.com] The cutaneious syndactyly seen usually does not involve underlying bony fusion. A strong relationship between ABS and clubfoot exists.[podiatrynetwork.com] In rare situations, it may be associated with: Ehlers-Danlos syndrome epidermolysis bullosa There is a massive spectrum of abnormalities, depending on which part becomes entrapped[radiopaedia.org]

  • Congenital Absence of Both Lower Leg and Foot

    Fibular hemimelia is also found in several generalized skeletal dysplasias and dysostoses.[dysnet.org] The cutaneious syndactyly seen usually does not involve underlying bony fusion. A strong relationship between ABS and clubfoot exists.[ahni.com] […] simplex Q811Epidermolysis bullosa letalis Q812Epidermolysis bullosa dystrophica Q818Other epidermolysis bullosa Q819Epidermolysis bullosa, unspecified Q820Hereditary lymphedema[cms.gov]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    ; TOD Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent[mendelian.co] When cryptophthalmos occurs in association with other systemic abnormalities, as it often does, the condition is described as cryptophthalmos syndrome.[entokey.com] bullosa dystrophica, AD ZFLNCG06123 601088 Ayme-Gripp syndrome ZFLNCG11173 613310 Exudative vitreoretinopathy 5 ZFLNCG02289 611664 Skin/hair/eye pigmentation 7, blond/brown[zflnc.org]

  • Syndactyly

    Syndactyly is a frequent feature in skeletal dysplasias and various malformation syndromes.[ncbi.nlm.nih.gov] 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]

  • Saethre-Chotzen Syndrome

    Abstract The hand radiographs of fifteen patients with a diagnosis of Saethre-Chotzen syndrome were reviewed by a radiologist with an interest in skeletal dysplasia along[ncbi.nlm.nih.gov] 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] 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]

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