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22 Possible Causes for Cataract, Conical-Shaped Teeth, 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] To our knowledge, this represents the first report of a family in which bilateral premature cataracts appear to be inherited with hidrotic ectodermal dysplasia.[ncbi.nlm.nih.gov] : 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]

  • 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] In some types of ED, abnormal development of parts of the eye can result in dryness of the eye, cataracts, and vision defects.[en.wikipedia.org] 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]

  • XXXXY Syndrome

    The most remarkable skeletal and dental anomalies were the absence of 9 permanent teeth, taurodontism of the permanent first molars, and the conical shape of permanent maxillary[ncbi.nlm.nih.gov] Cardiac echo revealed small PFO and PDA Eye examination revealed Lt anterior polar cataract of 1 mm and another posterior subcapsular cataract.[ashg.org] There was also an increase in pubic hair growth, testicular volume and penis size, weight loss, homeostatic model assessment index reduction and the normalisation of vitamin[edmcasereports.com]

  • 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] The ectodermal traits are clearly seen as trichodysplasia, onychodysplasia, skin manifestations, and nuclear cataract.[docslide.com.br] Brachymetapody-Anodontia-Hypotrichosis-Albinoidism brachyolmia Caffey disease campomelic dysplasia Camurati-Engelmann disease Cartilage Hair Hypoplasia Like Syndrome cartilage-hair hypoplasia CATARACTS[rgd.mcw.edu]

  • Congenital Alopecia

    The teeth may be absent or few in number, and characteristically the canines and incisors are conical shaped.[wjpch.com] Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.[ncbi.nlm.nih.gov] The loss of hair affects the scalp, eyebrows, eyelashes, body hair, axillary and pubic hair.[jpma.org.pk]

  • SHORT Syndrome

    The primary teeth show normal shape, size, pulp chamber, resorption pattern, enamel, and dentin translucency.[indjos.com] There was no glaucoma or cataract. There was marked deviation of nasal septum to left side with secondary hypertrophy of turbinates.[indianpediatrics.net] They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop.[medlineplus.gov]

  • 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] Retardation-Spasticity-Distal Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract[neo-genetics.com] Cataract surgery may be indicated in selected individuals.[disorders.eyes.arizona.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] Many infants die within the first year; those who live may exhibit dwarfism, mental retardation, and congenital cataracts.[britannica.com] […] involving entire scalp and body including eyebrows, eyelashes, axillary, and pubic regions.[ijtrichology.com]

  • Anodontia

    […] the midline and have root formation chronologically matching the teeth of the region. [4] The distinct conical shape with no resemblance to the adjacent teeth and root formation[dmrjournal.org] Dubowitz syndrome hyperopia, cataracts, tapetoretinal degeneration, strabismus and taurodontia, anodontia /hypodontia or hyperdontia have been reported....[evidence.nhs.uk] The young female patient should also be able to menstruate and the males demonstrate changes from testosterone (eg. shaving, pubic hair, change in voice).[oralhealthgroup.com]

  • 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] She had surgery for obstruction of the vagina and lacrymal ducts in the first year of life, and for bilateral cataract at 20 years of age.[nature.com] Teeth that are present may show a characteristic conical, pointed shape (peg-teeth), or have abnormal enamel that is prone to cavities.[encyclopedia.com]

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