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130 Possible Causes for Deafness, Partial Syndactyly of Fingers and Toes

  • Saethre-Chotzen Syndrome

    Patients sometimes have visceral malformations, like heart defects, cryptorchidism or sensorial organ malfunction, such as deafness.[symptoma.com] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[ncbi.nlm.nih.gov] […] multiple surgeries at an early age Saethre-Chotzen Syndrome does not adversely affect adults unless there was early presence of either slow development, hearing loss, or deafness[wiki.ggc.usg.edu]

  • Patel-Bixler Syndrome

    Craniometaphyseal dysplasia manifests with macrocephaly, proptosis, hypocalcemia, hyperparathyroidism, wide metaphyses, and sensorineural deafness.[ncbi.nlm.nih.gov] CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.[rarediseases.org] syndactyly of fingers and toes.[ncbi.nlm.nih.gov]

  • Facioauriculoradial Dysplasia

    MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia: Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and[malacards.org] […] tarsal bones and partial cutaneous syndactyly.[mendelian.co] […] of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia.[monarchinitiative.org]

  • Otoonychoperoneal Syndrome

    […] myopia Optic atrophy polyneuropathy deafness Optic atrophy, autosomal dominant Optic atrophy, idiopathic, autosomal recessive Optic atrophy Optic nerve coloboma with renal[wikidoc.org] syndactyly of fingers and toes, brachydactyly of toes, valgus def[academicoo.com] syndactyly Talipes equinovarus Toe syndactyly Severe muscular hypotonia Chorioretinal coloboma Plagiocephaly Proximal placement of thumb Abnormal vertebral morphology High[mendelian.co]

  • Pili Torti

    A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.[ncbi.nlm.nih.gov] ( 2449003 ) Barth JH...Dawber RP 1987 27 Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?[malacards.org] Pili torti and nerve deafness Get Update Overview Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti.[diseaseinfosearch.org]

  • Fraser Syndrome

    Evaluate deafness (clinical, auditory evoked potentials, ear, nose, throat investigations).[accessanesthesiology.mhmedical.com] Some of the most common ones are middle and outer ear deformities, partial fusion of the fingers and toes (syndactyly), complete fusion of the eyelids (cryptophthalmos) and[symptoma.com] It is alternately called cryptophthalmos-syndactyly syndrome since most affected individuals also have partial fusion or webbing of their fingers or toes (syndactyly).[encyclopedia.com]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    […] anomalies-metacarpal and metatarsal synostosis syndrome Deafness-intellectual disability syndrome, Martin-Probst type Deafness-onychodystrophy syndrome Delayed membranous[se-atlas.de] Type I (SD1; MIM 185900) rdSyndactyly type I is characterized by complete or partial webbing between the 3 and th nd rd4 fingers and/or 2 and 3 toes.[en.youscribe.com] A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎[books.google.es]

  • Oculodentodigital Dysplasia

    Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media.[ncbi.nlm.nih.gov] She was born with bilateral partial syndactyly of the toes and fingers and complete syndactyly of the 4th and 5th fingers of the left hand.[acnr.co.uk] Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Mental Retardation Type 21

    […] pedigrees and in Xq13–q21 deletion related deafness.[link.springer.com] syndactyly of fingers and toes; Brachymesophalangy of hands and feet; [Feet]; Broad great toe NEUROLOGIC: [Central nervous system]; Occasional mental retardation; Hydrocephalus[genome.jp] Disorders Deafness Conductive Ptosis Skeletal Anomalies Deafness, Congenital Onychodystrophy, Recessive Form Deafness, Nephritis, Anorectal Malformation deafness-dystonia-optic[rgd.mcw.edu]

  • Zlotogora-Ogur Syndrome

    […] are given below: Twisted hair Hypohidrosis Dry skin Palmoplantar keratoderma Abnormal teeth Facial dysmorphism Microdontia Anodontia Cutaneous syndactyly Onychodystrophy Deafness[curerator.com] Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes and mental retardation. A new syndrome? J. Med.[nature.com] Additional features including intellectual disability, deafness, hypoplastic lacrimal puncta, nipple anomalies, genitourinary abnormalities (hypoplastic scrotum and presence[orpha.net]

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