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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.[] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[] […] 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[]

  • Patel-Bixler Syndrome

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

  • Facioauriculoradial Dysplasia

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

  • Otoonychoperoneal Syndrome

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

  • 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.[] ( 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?[] Pili torti and nerve deafness Get Update Overview Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti.[]

  • Fraser Syndrome

    Evaluate deafness (clinical, auditory evoked potentials, ear, nose, throat investigations).[] 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[] It is alternately called cryptophthalmos-syndactyly syndrome since most affected individuals also have partial fusion or webbing of their fingers or toes (syndactyly).[]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    […] anomalies-metacarpal and metatarsal synostosis syndrome Deafness-intellectual disability syndrome, Martin-Probst type Deafness-onychodystrophy syndrome Delayed membranous[] 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.[] A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎[]

  • Oculodentodigital Dysplasia

    Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media.[] 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.[] Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances.[]

  • Autosomal Dominant Mental Retardation Type 21

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

  • Zlotogora-Ogur Syndrome

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

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