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1,001 Possible Causes for Atretic Ear Canals, Jarcho-Levin Syndrome, Thick Wiry Hair

  • Rapp-Hodgkin Syndrome

    dysostosis type 5 TBX6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6 Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2[centogene.com] (hypotrichosis) Can be brittle, coarse or wiry with pili torti Patchy alopecia (lack of hair) Eyebrows, eyelashes and body hair may also be sparse or absent.[nfed.org] […] disorder type 1 FOXP2 Spina bifida folate sensitive MTRR Split-hand/foot malformation type 1 with sensorineural hearing loss DLX5 Split-hand/foot malformation type 6 WNT10B Spondylocostal[centogene.com]

  • Goldenhar Syndrome

    , preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular[ncbi.nlm.nih.gov] Other external ear malformations (40-60%) may include preauricular tags, lop or bat ears, and microtia. The external auditory canals may be atretic.[emedicine.medscape.com] Otolaryngologic manifestations The auricular malformations include preauricular pits, which are blind pinhead-sized depressions in the superior part of the pinna of the ear[emedicine.medscape.com]

    Missing: Thick Wiry Hair
  • Chudley-Rozdilsky Syndrome

    dysostosis 1 - See Spondylocostal dysostosis / Spondylocostal dysostosis 2 - See Spondylocostal dysostosis / Spondylocostal dysostosis 3 - See Spondylocostal dysostosis [gennome.com] Facial anomalies may include microcephaly, thickening of the skull, hemifacial microsomia, enlarged frontal sinuses, microtia, atretic ear canal, hypertelorism, blepharoptosis[accessanesthesiology.mhmedical.com] Holmgren Hofer Syndrome Jalili Syndrome Jankovic Rivera Syndrome Jarcho-Levin Syndrome Jet Lag Syndrome JMP syndrome Johanson-Blizzard syndrome Johnson Munson Syndrome Johnson[rgd.mcw.edu]

    Missing: Thick Wiry Hair
  • Craniofrontonasal Dysplasia

    wiry hair, and occasionally cleft lip and/or palate.[genedx.com] wiry hair with orbital asymmetry and strabismus. 5 The extracranial features include multiple skeletal malformations, such as sloping shoulders, dysplastic clavicles, thoracic[ncbi.nlm.nih.gov] , wiry, and curly hair at 2-3 months Defects in formation of toes and fingers, broad fingers and toes, curved last finger Increased webbing in between the fingers and toes[dovemed.com]

    Missing: Atretic Ear Canals Jarcho-Levin Syndrome
  • Spondylocostal Dysostosis

    JarchoLevin syndrome (JLS), also called autosomal recessive spondylocostal dysostosis (ARSD), is a rare type of segmental costovertebral malformation.[symptoma.com] There are two types of Jarcho-Levin syndrome, spondylothoracic dysplasia and spondylocostal dysostosis.[ncbi.nlm.nih.gov] Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and[ncbi.nlm.nih.gov]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Sprengel Deformity

    Jarcho-Levin syndrome. Indian Pediatr 1994;31:1119-22. 3. Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome.[mjdrdypu.org] Vijayan S, Shah H (2012) Spondylocostal dysostosis with Sprengel's shoulder—report of a new association with JarchoLevin syndrome.[link.springer.com] (Jarcho Levin Syndrome) [4].[medresearch.in]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Thickened Earlobes-Conductive Deafness Syndrome

    dysostosis VLCAD deficiency Spastic paraplegia 13 Beckwith-Wiedemann syndrome Femur bifid with monodactylous ectrodactyly Leukonychia totalis Charcot-Marie-Tooth disease[checkrare.com] Microtia-anotia Definition: Deformed or absent pinna with an atretic ear canal. Most forms are associated with conductive hearing loss.[sonoworld.com] dysostosis Spinocerebellar degeneration and corneal dystrophy Sugarman brachydactyly Familial osteochondritis dissecans Neuropathy, hereditary motor and sensory, Russe type[checkrare.com]

    Missing: Thick Wiry Hair
  • Congenital Malformation of the Ribs

    The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.[icd.codes] Badiner N, Taylor SP, Forlenza K, Lachman RS, , Bamshad M, Nickerson D, Cohn DH, Krakow D Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation.[medicbind.com] Keywords: Jarcho-Levin syndrome, polythelia, spina bifida, spondylocostal dysostosis How to cite this article: Rai N, Thakur N.[jcnonweb.com]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Hidrotic Ectodermal Dysplasia

    dysostosis (AR) DLL3 Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3 Stargardt disease ABCA4 Stickler Syndrom COL11A2, COL2A1, COL9A2, COL9A1 Surfactant[meduniwien.ac.at] What to be alert for in the history --Abnormally thick and wiry hair in infancy --Progressive alopecia with age --Progressively dystrophic nails --Palmoplantar changes --Painful[dermatologyadvisor.com] Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale.[rarediseases.info.nih.gov]

    Missing: Atretic Ear Canals
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    dysostosis type 5 TBX6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6 Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2[centogene.com] […] anatomy Click here to view Discussion Microtia-anotia means deformed or absent pinna with an atretic ear canal.[indianjotol.org] […] disorder type 1 FOXP2 Spina bifida folate sensitive MTRR Split-hand/foot malformation type 1 with sensorineural hearing loss DLX5 Split-hand/foot malformation type 6 WNT10B Spondylocostal[centogene.com]

    Missing: Thick Wiry Hair