Create issue ticket

13 Possible Causes for Epidermolysis Bullosa, Hypertelorism, 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] Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose[ncbi.nlm.nih.gov] bullosa with pyloric atresia EDAR ( EDAR Hypohidrotic ectodermal dysplasia ) · PTCH1 ( Nevoid basal cell carcinoma syndrome ) · BMPR1A ( BMPR1A Juvenile polyposis syndrome[dictionary.sensagent.com]

  • Robinow Syndrome

    Partial cutaneous syndactyly occurs in the hands and feet, but does not produce a consistent pattern.[jmg.bmjjournals.com] The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[ncbi.nlm.nih.gov] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

  • Apert Syndrome

    Unlike Apert syndrome, however, PS does not generally cause syndactyly of the hands.[forgottendiseases.org] We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism,[ncbi.nlm.nih.gov] 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

    Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] 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]

  • Jackson Weiss Syndrome

    The treatment of JWS is typically directed toward the specific symptoms that are apparent in each individual. 0010059 Broad metatarsal Wide long bone of foot 0001783 Hypertelorism[rarediseases.info.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]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    When cryptophthalmos occurs in association with other systemic abnormalities, as it often does, the condition is described as cryptophthalmos syndrome.[entokey.com] BEARE-STEVENSON SYNDROME/Proptosis, hypertelorism, downslanting palpebral fissures/AD/FGFR2/#123790 BECKWITH-WIEDEMANN SYNDROME/Deep-set eyes, hypertelorism, epicanthal folds[eyewiki.org] bullosa dystrophica, AD ZFLNCG06123 601088 Ayme-Gripp syndrome ZFLNCG11173 613310 Exudative vitreoretinopathy 5 ZFLNCG02289 611664 Skin/hair/eye pigmentation 7, blond/brown[zflnc.org]

  • Amniotic Band Syndrome

    Ocular defects include corneal leukomas and lid colobomas often contiguous with facial clefts, strabismus, hypertelorism, and microphthalmos.[ncbi.nlm.nih.gov] The cutaneious syndactyly seen usually does not involve underlying bony fusion. A strong relationship between ABS and clubfoot exists.[podiatrynetwork.com] We describe two male infants born with features of dystrophic epidermolysis bullosa (DEB) and ABS.[ncbi.nlm.nih.gov]

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

    Teebi hypertelorism syndrome. Clin Dysmorphol, 2003; 12(3):187-189. 60. Kohli K. Peripheral ossifying fibroma associated with a neonatal tooth: Case report.[vdocuments.mx] 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]

  • Amniotic Band

    They included corneal opacity, corneal ulcer, eyelid ectropion, eyelid coloboma, anophthalmos, hypertelorism, protuberant eyes, and eyelid involvement by a cystic hygroma.[link.springer.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]

  • Syndactyly

    This condition does not have a notable cause and may occur in isolation or is inherited.[epainassist.com] Hypertelorism and microphthalmia can be present. The sclerae can have a bluish hue.[disorders.eyes.arizona.edu] Secondary syndactyly, also called "pseudosyndactyly", is rare and can be a complication of burns, dystrophic epidermolysis bullosa or trauma.[ncbi.nlm.nih.gov]

Similar symptoms