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35 Possible Causes for Conical-Shaped Teeth, Hearing Impairment, No Pubic Hair

  • Hidrotic Ectodermal Dysplasia

    Figure 3: Teeth are reduced in number and are conical in shape. Figure 4: Panoramic radiograph shows eight erupted teeth of primary dentition and eight tooth buds. 3.[hindawi.com] ; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Related symptoms: Autosomal dominant inheritance Hearing impairment Scoliosis Growth[mendelian.co] : absent eyebrows short, thin, sparse, pale scalp hair short, sparse eyelashes sparse axillary and pubic hair Clinical features from OMIM: 601375 Human phenotypes related[malacards.org]

  • Rapp-Hodgkin Syndrome

    AEC Syndrome is a Rare Genetic Condition Characterized by Teeth Missing (hypodontia) Conical shaped teeth Sweat Glands A reduced ability to sweat (hypohidrosis) Skin Fragile[nfed.org] Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment Disease Ontology : 12 An autosomal dominant disease characterized by abnormal[malacards.org] .  Hair:  Scalp hair is sparse, fine, lightly pigmented and grows slowly  Eyebrows & eyelashes are scanty or absent  Secondary sexual hair in the beard, pubic and axillary[de.slideshare.net]

  • Oculo-Osteo-Cutaneous Syndrome

    ; widely spaced Enamel hypoplasia; peg-shaped; widely spaced Hypodontia; microdontia; abnormally shaped Hypodontia; diminutive upper lateral incisors; prepubertal periodontitis[docksci.com] ; Visual Impairments The Autism Network for Hearing & Visually Impaired Persons c/o Dolores and Alan Barrel 7510 Oceanfront Ave.[thefreelibrary.com] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin[malacards.org]

  • X-Linked Mandibulofacial Dysostosis

    […] have conical shape, Enamel hypoplasia, Presence of natal teeth (teeth present at birth), Natal teeth can be the actual primary teeth or supernumerary teeth, May need to be[quizlet.com] Showing of 29 80%-99% of people have these symptoms Branchial anomaly 0009794 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Downslanted[rarediseases.info.nih.gov] impairment from EAC and/or middle ear malformations Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids[slideplayer.com]

  • Ectodermal Dysplasia

    […] with ectodermal dysplasia (ED) include complete or partial hypodontia, anodontia, loss of vertical dimension of occlusion, protuberant lips, malformed and widely spaced conical-shaped[ncbi.nlm.nih.gov] Some individuals with ectodermal dysplasia, particularly those with EEC syndrome, may have hearing impairment.[encyclopedia.com] After puberty, male patterns of hair growth (e.g., moustache and beard) can be normal, while in other cases, facial and pubic hair growth may be sparse.[rarediseases.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    teeth, and facial abnormalities. anteroposterior facial dysplasia defective development resulting in abnormal anteroposterior relations of the maxilla and mandible to each[medical-dictionary.thefreedictionary.com] Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment[genomediagnosticsnijmegen.nl] However, the hairs did not show any structural alterations (at the light microscopy level). Axillary and pubic hair was scanty.[docslide.com.br]

  • SHORT Syndrome

    The primary teeth show normal shape, size, pulp chamber, resorption pattern, enamel, and dentin translucency.[indjos.com] impairment, clinodactyly, and normal intellectual development, which may be particularly important in distinguishing SHORT syndrome from many other genetic diseases that[symptoma.com] They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop.[medlineplus.gov]

  • Congenital Ankyloblepharon

    AEC Syndrome is a Rare Genetic Condition Characterized by Teeth Missing (hypodontia) Conical shaped teeth Sweat Glands A reduced ability to sweat (hypohidrosis) Skin Fragile[nfed.org] The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions.[findzebra.com] Impairment, and Cleft Palate MOMES Syndrome Multiple Epiphyseal Dysplasia with Robin Phenotype Native American myopathy Nephrotic Syndrome with Ocular Anomalies NEURODEVELOPMENTAL[rgd.mcw.edu]

  • Autosomal Recessive Nail Dysplasia

    They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity.[jmg.bmj.com] impairment, dental issues, short stature, and neurologic symptoms.[encyclopedia.com] […] involving entire scalp and body including eyebrows, eyelashes, axillary, and pubic regions.[ijtrichology.com]

  • Hoffman Syndrome

    Teeth were conical in shape and deep carious lesion was present in relation to 54, 74, 75 and 85. The teeth in relation to 22 and 12 were congenitally missing.[ncbi.nlm.nih.gov] […] and Dentate Gyrus Atrophy Congenital Cataracts, Hearing Loss, and Neurodegeneration congenital central hypoventilation syndrome CONGENITAL CONTRACTURES OF THE LIMBS AND FACE[rgd.mcw.edu] There was precocious thelarche but an absence of pubic and axillary hair. The isosexual precocious puberty in VWGS is always incomplete [ 5 ].[karger.com]

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