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11 Possible Causes for Epidermolysis Bullosa, Hearing Impairment, 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] Most common symptoms of SCLEROSTEOSIS 1; SOST1 Autosomal recessive inheritance Hearing impairment Hypertelorism Nystagmus Strabismus More info about SCLEROSTEOSIS 1; SOST1[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]

  • Robinow Syndrome

    Partial cutaneous syndactyly occurs in the hands and feet, but does not produce a consistent pattern.[jmg.bmjjournals.com] Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome.[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]

  • Apert Syndrome

    Unlike Apert syndrome, however, PS does not generally cause syndactyly of the hands.[forgottendiseases.org] impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal[rarediseases.info.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

    Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing[mlpa.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]

  • 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] Diseases related with Hearing impairment and Iris coloboma In the following list you will find some of the most common rare diseases related to Hearing impairment and Iris[mendelian.co] bullosa dystrophica, AD ZFLNCG06123 601088 Ayme-Gripp syndrome ZFLNCG11173 613310 Exudative vitreoretinopathy 5 ZFLNCG02289 611664 Skin/hair/eye pigmentation 7, blond/brown[zflnc.org]

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

    impairment and cleft palate (MHICP) H02115 Congenital aural atresia H02286 Congenital deafness with inner ear agenesis, microtia, and microdontia Congenital malformations[genome.jp] Postaxial polydactyly of the feet does occur, as does (partial) syndactyly of the second and third toes or third and fourth fingers.[docplayer.net] Epidermolysis bullosa simplex: review and report of case. ASDC J Dent Child, 1998; 65(5):349-353. 70. Liu M, Huang W. Oral abnormalities in Taiwanese newborns.[vdocuments.mx]

  • Jackson Weiss Syndrome

    Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.[ghr.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]

  • Syndactyly

    This condition does not have a notable cause and may occur in isolation or is inherited.[epainassist.com] Development of facial nerve palsy, hearing impairment and generalized osteosclerosis had occurred between 3 years and 4 years of age, with the subsequent identification of[ncbi.nlm.nih.gov] Secondary syndactyly, also called "pseudosyndactyly", is rare and can be a complication of burns, dystrophic epidermolysis bullosa or trauma.[ncbi.nlm.nih.gov]

  • Congenital Absence of Both Lower Leg and Foot

    […] of hearing Excludes: congenital deafness without mention of cause (380.0-389.9) 744.00 Unspecified anomaly of ear with impairment of hearing 744.01 Absence of external ear[theodora.com] 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]

  • Pure Hair-Nail Ectodermal Dysplasia

    In some cases isolated soft tissue syndactyly or thumb anomalies may occur.[zdoc.site] MARSHALL SYNDROME; MRSHS Is also known as ; Related symptoms: Autosomal dominant inheritance Short stature Hearing impairment Hypertelorism Nystagmus SOURCES: OMIM UMLS MESH[mendelian.co] Epidermolysis bullosa . J. Med. Genet. , 2 : 221 – 308 . Dominok , G.W. , Rönisch , P. 1968 .[cambridge.org]

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