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42 Possible Causes for Alopecia, Bilateral Congenital Profound Sensorineural Hearing Loss, Retinitis Pigmentosa

  • Refsum Disease

    Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome Alagille syndrome Albinism (& (hypopigmentation) Alopecia[kumc.edu] Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations[ncbi.nlm.nih.gov]

  • Alstrom Syndrome

    Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org] […] year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia[ncbi.nlm.nih.gov] Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.[ijem.in]

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] […] left heart syndrome 1241550 GJA1Oculodentodigital dysplasia,164200 GJA1Oculodentodigital dysplasia, autosomal recessive,257850 GJA1Palmoplantar keratoderma with congenital alopecia[qgenomics.com] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] ., skin rash, alopecia, conjunctivitis) Neurologic & cutaneous manifestations resolve w/biotin treatment; hearing loss & optic atrophy are usually irreversible When a child[ncbi.nlm.nih.gov] LXXIX The Association of Nerve Deafness and Retinitis Pigmentosa Interval Report . Annals of Otology, Rhinology & Laryngology, Vol. 69, Issue. 4, p. 1044.[journals.cambridge.org]

  • Trichorhinophalangeal Syndrome Type 1 and 3

    Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses[centogene.com] alopecia.[jamanetwork.com] Usher syndrome is a genetic condition causing both hearing loss and vision loss resulting from a condition called Retinitis Pigmentosa (RP).[ohsu.edu]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset.[ncbi.nlm.nih.gov] Alopecia hypogonadism extrapyramidal disorder 0 *Alopecia *Basal Ganglia Diseases *Hypogonadism.[reference.md] Learn more Other less relevant matches: Low match RETINITIS PIGMENTOSA Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors[mendelian.co]

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Eye Optic Atrophy: Vision loss Conjunctivitis Hearing Loss Developmental Delay Hypotonia Myelopathy Quadriplegia Spasticity Recurrent exacerbations Systemic features Skin: Alopecia[neuromuscular.wustl.edu] Retinal changes have been reported in five patients and vary from retinal pigmentary epithelial changes to retinitis pigmentosa [7, 9, 11, 12, 14].[ojrd.biomedcentral.com]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Alopecia universalis Alport syndrome Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 Aneurysm - osteoarthritis syndrome[sanfordresearch.org] […] androgenic alopecia, see androgenetic alopecia ANE1, see acute necrotizing encephalopathy type 1 Anemia, Dyserythropoietic, Congenital, see congenital dyserythropoietic anemia[mygenomics.com]

  • Tricho-Retino-Dento-Digital Syndrome

    Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Ehlers-Danlos[findzebra.com] Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual[se-atlas.de] Retinitis Pigmentosa 31 4 Retinitis Pigmentosa 33 5 Retinitis Pigmentosa 35 5 Retinitis Pigmentosa 36 4 Retinitis Pigmentosa 37 5 Retinitis Pigmentosa 38 5 Retinitis Pigmentosa[preventiongenetics.com]

  • Usher Syndrome Type 3B

    Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Melanie also has a bilateral cleft palette and alopecia, which inhibits natural hair growth.[dailymail.co.uk] USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[uniprot.org]

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