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29 Possible Causes for Nail Abnormality, Variable Expressivity of Each Feature

  • Neuropathy

    Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ncbi.nlm.nih.gov] Diagnosis is based upon clinical features as well as the degree of both sensory and autonomic dysfunction.[ncbi.nlm.nih.gov]

  • Hereditary Sensory Neuropathy

    […] and hair abnormalities and presence of normal sweat glands on skin biopsy exclude the anhidrotic ectodermal dysplasia.[ijpd.in] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[doi.org] Each HSAN disorder is likely caused by genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. [3] HSAN[ijpd.in]

  • Popliteal Pterygium Syndrome

    It is concluded that the presence of this distinctive nail abnormality in infants with cleft lip, cleft palate or both suggests the diagnosis of the popliteal pterygium syndrome[ncbi.nlm.nih.gov] As such, one should consider whether the DVWS and PPS might be interlocked as a single syndrome, connected to the chromosomes 1q32 and 1q34, with variable expressions of features[omicsonline.org] PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.[en.wikipedia.org]

  • Ectrodactyly-Ectodermal Dysplasia without Clefting Syndrome

    Pitted nails (ice pick-like depressions in the nails) Abnormally formed (dystrophic) Eyes Abnormal development of tear glands, tear ducts, and meibomian glands.[nfed.org] The syndrome presents a wide intra- and interfamilial clinical variability: the presence of the cardinal signs together is not mandatory and each one of them can be expressed[orpha.net] Ectodermal dysplasia is a large group of inherited disorders characterised by a primary defect in hair, teeth, nails or sweat gland function, in addition to another abnormality[dermnetnz.org]

  • Congenital Upper Palpebral Retraction

    Limb abnormality consists of defects in midportion of hand and feet, varying from syndactly to a split hand/foot anomaly.[oandplibrary.org] EEC syndrome: Each of the three main features of ectrodactyly, ectodermal dysplasia and clefting syndrome shows a variable degree of expressivity.[oandplibrary.org] The ectodermal part of this syndrome involves the hair (dry and sparse with absent eyebrows and eyelashes), teeth (small or absent) and nails (brittle and ridged).[oandplibrary.org]

  • Ectrodactyly

    Pitted nails (ice pick-like depressions in the nails) Abnormally formed (dystrophic) Eyes Abnormal development of tear glands, tear ducts, and meibomian glands.[nfed.org] The syndrome presents a wide intra- and interfamilial clinical variability: the presence of the cardinal signs together is not mandatory and each one of them can be expressed[orpha.net] Tiny nails Fragile nails Blonde hair Thin eyelashes Ectrodactyly Diagnosis The diagnosis of this disorder is complex as its symptoms are similar to medical conditions such[hxbenefit.com]

  • Pallister W Syndrome

    Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic[thinkgenetic.com] Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression.[marfan.org] […] or toenails, or absent nails. * Respiratory abnormalities including underdeveloped or abnormally developed lungs * Anus lacking the usual opening * Congenital heart defects[checkorphan.org]

  • Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy

    […] and hair abnormalities and presence of normal sweat glands on skin biopsy exclude the anhidrotic ectodermal dysplasia.[ijpd.in] […] syndrome; hereditary arthrodysplasia autosomal-dominant abnormality of finger/toenails, absent/hypoplastic patella, defects of head of radius and iliac horns, and iris discoloration[medical-dictionary.thefreedictionary.com] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com]

  • Channelopathy-Associated Congenital Insensitivity to Pain

    […] minor trauma. 4 Loss of sweating also leads to a thick and calloused appearance of the skin particularly in the palms, areas of reduced hair on the scalp and dystrophic nails[apicareonline.com] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com] […] papillae of the tongue and can later develop finger nail dystrophy. [6] HSAN Type IV is an autosomal recessive disorder associated with several defects of the gene NTRK1[ijoonline.com]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    Differences include hair and nail abnormalities in XP-TTD and progeria in XP-CS.[ojrd.biomedcentral.com] Different mutations in one gene can give rise to more than one clinical entity (variable expression) and conversely, each clinical entity can arise from mutations in more[plasticsurgerykey.com] Eight patients had nail dystrophies.[jamanetwork.com]

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