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2,172 Possible Causes for Hyperconvex Fingernails, Overfolded Superior Helix, Polydactyly

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[] fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[] , and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual disabilities[]

  • Patau Syndrome

    A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[]

    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[] […] comparison with other cases of short rib-polydactyl syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly[] The short-rib polydactyly syndromes (SRPS) have been divided into four types.[]

    Missing: 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[] Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Man [ edit ] Mandibuloacral dysplasia Mandibulofacial dysostosis deafness postaxial polydactyly[] 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[]

    Missing: Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[] […] digit polydactyly; and type 5, polysyndactyly ( 4 , 8 , 11 ).[] The technique for postaxial polydactyly is described later. Fig. 26-3 Venn-Watson classification of polydactyly. A, Preaxial polydactyly. B, Postaxial polydactyly.[]

    Missing: Hyperconvex Fingernails
  • Adactyly of Foot

    Thin, hypoplastic hyperconvex fingernails.[] Disease Type of connection Adactyly of foot, unilateral Hypoplastic tibiae - postaxial polydactyly Polydactyly of a triphalangeal thumb, bilateral Polydactyly of a triphalangeal[] Polydactyly Extra digits. Postaxial Ulnar. Preaxial Radial. Radial deficiency Congenital partial or complete absence of the radius.[]

    Missing: Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[] This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[] She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene.[]

    Missing: Hyperconvex Fingernails
  • Simpson Dysmorphia Syndrome

    fingernails - Umbilical hernia - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis - Ventricular septal defect / interventricular communication[] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[] Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and broad with dysplatic nails Cutaneous syndactyly Polydactyly[]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    Genetic syndromes such as Smith-Lemli-Opitz syndrome, Robinow syndrome, Fraser syndrome, Schprintzen syndrome, short-rib polydactyly syndrome and WHS may be associated with[] The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly[]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] […] or postaxial polydactyly (Biesecker, 2010).[] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[]

    Missing: Hyperconvex Fingernails

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