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168 Possible Causes for Abnormal Dermatoglyphic Pattern, Hyperconvex Fingernails, Overfolded Superior Helix

  • Patau Syndrome

    A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.com] In addition, Trisomy 13 Syndrome may be associated with abnormal skin ridge patterns (dermatoglyphics), including a single deep crease across the palms of the hands (simian[rarediseases.org] The heels of the feet may be abnormally prominent.[rarediseases.org]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[rarediseases.info.nih.gov] The fingernails may be markedly hyperconvex. Flat feet and shortening of one of the lower limbs may occur and contribute to accentuate the clumsy, waddling gait ().[jped.com.br]

    Missing: Abnormal Dermatoglyphic Pattern
  • Trisomy 18

    Frequent findings also include unusual skin ridge patterns (dermatoglyphics) on the fingers and palms; underdeveloped (hypoplastic) nails, particularly those of the fifth[rarediseases.org] […] fingers and toes; and abnormal deviation of the great toes (hallux) in an upwardly bent position (dorsiflexion).[rarediseases.org]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    The case presented is that of a 22-year-old male with Wolf-Hirschhorn syndrome who was referred with glaucoma refractory to medical treatment. Six other patients have been described with Wolf-Hirschhorn syndrome (WHS) and glaucoma, most being congenital glaucoma with diagnosis in infancy. We describe the first[…][ncbi.nlm.nih.gov]

    Missing: Abnormal Dermatoglyphic Pattern Overfolded Superior Helix
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving[icd10data.com] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping If the initial evaluation suggests[aafp.org]

    Missing: Overfolded Superior Helix
  • Lenz-Majewski Syndrome

    fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hyperconvex[rarediseases.info.nih.gov]

    Missing: Abnormal Dermatoglyphic Pattern Overfolded Superior Helix
  • SHORT Syndrome

    fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving[icd10data.com] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping If the initial evaluation suggests[aafp.org]

    Missing: Overfolded Superior Helix
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    fingernails Diaphyseal thickening Subcortical cerebral atrophy Abnormal palate morphology Abnormality of the hip bone Spinal dysraphism Limited elbow extension Short thorax[mendelian.co] The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving[icd10data.com] […] dysplasia Postaxial hand polydactyly Scarring Oligohydramnios Narrow greater sacrosciatic notches Brain atrophy Nail dysplasia Eczema Postaxial polydactyly Severe platyspondyly Hyperconvex[mendelian.co]

    Missing: Overfolded Superior Helix
  • Kabuki Syndrome

    dermatoglyphic patterns.[ncbi.nlm.nih.gov] Skin - persistent fetal finger pads and abnormal dermatoglyphic patterns are hallmarks of Kabuki syndrome.[symptoma.com] dermatoglyphic patterns seizures (32%) immune system dysfunction skeletal dysplasia (92%) clinodactyly of the fifth digit of the hand short digits spinal deformities sagittal[radiopaedia.org]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    0100556 Hyperconvex fingernails 0001812 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Inguinal hernia 0000023 Kyphosis Hunched back Round[rarediseases.info.nih.gov] fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298 21 arthrogryposis multiplex congenita[malacards.org] […] dysplasia Abnormal fingernail development 0100798 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Hemiatrophy Asymmetric limb shortening[rarediseases.info.nih.gov]

    Missing: Abnormal Dermatoglyphic Pattern Overfolded Superior Helix