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13 Possible Causes for Female Gonadal Dysgenesis, Hyperconvex Nails, Widely Spaced Nipples

  • Turner Syndrome

    […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Anxiety Excessive, persistent[rarediseases.info.nih.gov] dysgenesis, 46xx); 46,xy (gonadal dysgenesis, 46,xy); and sex chromosome mosaicism; (gonadal dysgenesis, mixed).[icd9data.com] Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best[ncbi.nlm.nih.gov]

  • Mosaic Monosomy X

    spaced nipples niple hypoplasia (hypoplastic nipples) axillary air absent aortic anomalies ( 12640386 ) aortic coarctation aortic cystic medial necrosis dissecting aneurysms[humpath.com] dysgenesis Mixed gonadal dysgenesis Mixed partial gonadal dysgenesis Ovarian dysgenesis Turner syndrome Clinical Information A gonadal dysgenesis syndrome occurring in phenotypic[icd10data.com] […] chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities[rarediseases.info.nih.gov]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    spaced nipples Pectus excavatum or pectus carinatum (up to 90% have both, usually pectus carinatum superiorly and pectus excavatum inferiorly) Scoliosis As patients age,[pedclerk.bsd.uchicago.edu] The major features are short stature, growth failure, and gonadal dysgenesis. The clinical spectrum of abnormalities is broad but variable from girl to girl.[cmecorner.com] For example: A broad chest with widely spaced nipples. A wide carrying angle (this is the angle between the forearm and the hip when the arm is held by the side).[patient.info]

  • SHOX-Related Short Stature

    […] cubitus valgus); short (most commonly fourth) metacarpals (brachymetacarpia) and metatarsals (brachymetatarsia); low posterior hairline; a broad chest with the illusion of widely-spaced[endocrinologyadvisor.com] Genet. (1997) [ Pubmed ] Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature[wikigenes.org] […] hypoplasia, hyperconvex uplifted nails, multiple pigmented nevi, characteristic facies, short 4th metacarpal, high arched palate, or chronic otitis media.” 24 PWS is a rare[cmecorner.com]

  • Wilson-Turner Syndrome

    spaced nipples.[icd10data.com] hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family members Webbed neck: A broad neck and a low or indistinct hairline Cubitus valgus (increased[emedicine.medscape.com] spaced nipples, growth retardation which are features that guide to early diagnosis.[lungindia.com]

  • Perrault Syndrome 3

    spaced nipples Lymphedema Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness Ears: Serous otitis media is more[genetech.co.in] (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder.[ijem.in] ., Source MeSH Abnormalities, Multiple Adult Female Genes, Recessive Gonadal Dysgenesis Hearing Loss, Sensorineural Humans Syndrome Uterus Pub Type(s) Case Reports Journal[wwww.unboundmedicine.com]

  • Perrault Syndrome Type 2

    spaced nipples, sexual infantilism.[medical-dictionary.thefreedictionary.com] (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder.[ijem.in] Other characteristic physical findings: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive[genetech.co.in]

  • Zlotogora-Ogur Syndrome

    […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal[rarediseases.info.nih.gov] gonadal dysgenesis XX gonodal dysgenesis - deafness XX, male syndrome XX-GD XY sex reversal - adrenal failure Xylitol dehydrogenase deficiency Xylosylprotein 4-beta-galactosyltransferase[csbg.cnb.csic.es] nail Ectrodactyly Hoarse voice Widely spaced teeth Bifid uvula Supernumerary nipple Hypogonadism Abnormality of the ureter Renal agenesis Depressed nasal bridge Abnormality[mendelian.co]

  • Perrault Syndrome Type 4

    spaced nipples Lymphedema Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness Ears: Serous otitis media is more[genetech.co.in] (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder.[ijem.in] Autosomal recessive with gonadal dysgenesis and neurosensory hearing loss in females but only isolated neurosensory hearing loss in brothers.[accessanesthesiology.mhmedical.com]

  • Radio-Ulnar Synostosis - Retinal Pigment Abnormalities Syndrome

    Turner 's syndrome also includes short stature, broad chest with widely spaced nipples, epicanthal folds, widely spaced eyes, pigmented moles, ptosis, clinodactyly, and a[arthritisresearch.us] ) Pure gonadal dysgenesis Excludes: pseudohermaphroditism: female, with adrenocortical disorder (255.2) male, with gonadal disorder (257.8) with specified chromosomal anomaly[theodora.com] […] fingernails Everted upper lip vermilion Hypoplasia of the brainstem Abnormal oral mucosa morphology Ankyloblepharon Hyperconvex nail Concave nail Hidrotic ectodermal dysplasia[mendelian.co]

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