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2,585 Possible Causes for Holoprosencephaly, Nail Abnormality, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[] 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[] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[]

  • Septo-Optic Dysplasia

    In lobar holoprosencephaly which is the least severe form of other holoprosencephalies (alobar and semilobar), there is always varying degrees of fusion of the two cerebral[] None of these three patients had interhemispheric fusion in any form, excluding holoprosencephaly. They had normal facies.[] Consider lobar holoprosencephaly : may not be able to be differentiated 8 . cerebral anterior artery will have its course shifted anteriorly in lobar holoprosencephaly (sign[]

    Missing: Syndactyly between Adjacent Toes
  • Trisomy 18

    Other common disorders included the single palmar crease (42%) and hypoplastic nails (36%). Radial abnormalities were found in 11 patients (22%).[] Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE).[] The body structure details of the dead fetus could not be identified, whereas holoprosencephaly and omphalocele were identified in the living fetus on prenatal ultrasound.[]

    Missing: Syndactyly between Adjacent Toes
  • Trisomy 9

    Soft-tissue - clinodactyly, camptodactyly, syndactyly, dystrophic nails.[] We report a case of mosaic trisomy 9 with holoprosencephaly (HPE).[] 2003 19 Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review. ( 14563095 ) Stipoljev F....Kurjak A. 2003 20 Mosaic trisomy 9 and lobar holoprosencephaly[]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[] Hematologic disorders Congenital hemolytic icterus Polycythemia vera Sickle cell anemia Thalassemia Iatrogenic disorders Hydrocephalus with shunt Malformations Encephalocele Holoprosencephaly[]

    Missing: Nail Abnormality
  • Fitzsimmons-McLachlan-Gilbert Syndrome

    Basaran Yilmaz syndrome 0 *Hypotrichosis *Keratoderma, Palmoplantar *Nail Diseases *Pigmentation Disorders.[] […] deficiency, Gamma-aminobutyrate transaminase deficiency, Gangliosidosis generalized gm1, Gaucher's disease, Glut-1 deficiency syndrome, Gm1 gangliosidosis, Hartnup's disease, Holoprosencephaly[] […] caudal dysgenesis Holoprosencephaly deletion 2p Holoprosencephaly ectrodactyly cleft lip palate Holoprosencephaly radial heart renal anomalies Holoprosencephaly Holt–Oram[]

    Missing: Syndactyly between Adjacent Toes
  • Hidrotic Ectodermal Dysplasia

    Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale.[] Lobar holoprosencephaly Cyclopia Abnormality of the skin Scarring Scarring alopecia of scalp Hypoplastic nipples Retinal hemorrhage Breast aplasia Supernumerary ribs Generalized[] Symptoms to look for in individuals include abnormal nails and sparse hair.[]

    Missing: Syndactyly between Adjacent Toes
  • Patau Syndrome

    […] hyperconvex) nails.[] Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[] Abnormalities of hands and feet: polydactyly (extra fingers or toes), small hyperconvex nails and rocker-bottom feet [ 4 ].[]

    Missing: Syndactyly between Adjacent Toes
  • Pernicious Anemia

    Megalin deficiency in mice is associated with multiorgan dysfunction and the syndrome of holoprosencephaly.[] HOLOPROSENCEPHALY An inborn cranial defect, which is characterized by fusion of midline structures in the brain and face.[]

    Missing: Syndactyly between Adjacent Toes
  • Simpson Dysmorphia Syndrome

    […] hernia, cryptorchidism, nail dysplasia, abnormal dermatoglyphics, and sometimes mental retardation.[] Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Homocystinuria without methylmalonic aciduria Horizontal gaze palsy[] Dermatoglyphics Spine Vertebral Abnormalities And Scoliosis Skin Appendages Nail Dysplasia Of The Index Fingers Urogenital System Cryptorchidism Growth And Development Mental[]

    Missing: Syndactyly between Adjacent Toes