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11 Possible Causes for Alopecia, Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules

  • Alstrom Syndrome

    The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of peripheral and midperipheral fundus, coarser pigmentary changes with a "bone-spicule" configuration[ncbi.nlm.nih.gov] 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]

  • Refsum Disease

    Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org] 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]

  • Trichorhinophalangeal Syndrome Type 1 and 3

    The optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, called bone spicules (double arrows).[medicinenet.com] 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 Type 2A

    An eye fundus examination ( Figure 3 ) showed bone spicule deposits, attenuation of vessels, and a waxy pallor of the optic nerve head.[molvis.org] 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] […] left heart syndrome 1241550 GJA1Oculodentodigital dysplasia,164200 GJA1Oculodentodigital dysplasia, autosomal recessive,257850 GJA1Palmoplantar keratoderma with congenital alopecia[qgenomics.com]

  • Usher Syndrome Type 3B

    These include pigment dispersion, which means that some parts appear lighter than others, followed by "bone spicules" which are little jagged spots.[boystownhospital.org] 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]

  • Schneckenbecken Dysplasia

    […] overgrew the cartilage, producing spicules.[documents.tips] Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu] […] due to adenosine kinase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hyperphosphatasia with mental retardation syndrome Hypogonadism, alopecia[qlinics.com]

  • Piebald Trait - Neurologic Defects Syndrome

    […] adjusting from light to dark Incoordination Axial myopia Coma Exudative retinal detachment Shallow anterior chamber Cystoid macular edema Retinal pigment epithelial atrophy Bone[mendelian.co] bilateral sensorineural hearing loss.[orpha.net] Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual[se-atlas.de]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    The retinal picture resembles retinitis pigmentosa with ‘bone spicule’ pigment clumps, vascular attenuation, and pale optic nerve heads.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Neurologic Defects[rgd.mcw.edu]

  • Cataract - Ataxia - Deafness

    Bone-spicule-shaped pigment clumping may be present in the midperiphery while the optic disk is often pale and the retinal vessels are attenuated.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] Areata Alopecia Universalis Congenita Alpers Syndrome Alpers-like Hepatocerebral Syndrome Alpha-1-Antitrypsin Deficiency Alpha-B Crystallinopathy with Cataract Alport Syndrome[sequencing.com]

  • Usher Syndrome Type 2D

    Similar to other types of retinitis pigmentosa, fundus features include peripheral retinal atrophy with bone-spicule-like pigmentation, vascular attenuation, and waxy-pallor[webeye.ophth.uiowa.edu] 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] […] hypertension), abnormally decreased activity of the thyroid gland and underproduction of thyroid hormones (hypothyroidism), advanced bone age; patchy areas of hair loss (alopecia[rarediseases.org]

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