Create issue ticket

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[brighthub.com] 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] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[atlasgeneticsoncology.org]

  • 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[em-consulte.com] None of these three patients had interhemispheric fusion in any form, excluding holoprosencephaly. They had normal facies.[ncbi.nlm.nih.gov] Consider lobar holoprosencephaly : may not be able to be differentiated 8 . cerebral anterior artery will have its course shifted anteriorly in lobar holoprosencephaly (sign[radiopaedia.org]

    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%).[dx.doi.org] Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE).[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Trisomy 9

    Soft-tissue - clinodactyly, camptodactyly, syndactyly, dystrophic nails.[symptoma.com] We report a case of mosaic trisomy 9 with holoprosencephaly (HPE).[ncbi.nlm.nih.gov] 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[malacards.org]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

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

    Missing: Nail Abnormality
  • Fitzsimmons-McLachlan-Gilbert Syndrome

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

    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.[rarediseases.info.nih.gov] Lobar holoprosencephaly Cyclopia Abnormality of the skin Scarring Scarring alopecia of scalp Hypoplastic nipples Retinal hemorrhage Breast aplasia Supernumerary ribs Generalized[mendelian.co] Symptoms to look for in individuals include abnormal nails and sparse hair.[nfed.org]

    Missing: Syndactyly between Adjacent Toes
  • Patau Syndrome

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

    Missing: Syndactyly between Adjacent Toes
  • Pernicious Anemia

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

    Missing: Syndactyly between Adjacent Toes
  • Simpson Dysmorphia Syndrome

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

    Missing: Syndactyly between Adjacent Toes