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1,850 Possible Causes for Holoprosencephaly, Microphthalmos, Syndactyly between Adjacent Toes

  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[] Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and[] Holoprosencephaly (resulting from a defect in the division of the brain into two hemispheres) is present in 70% of cases and can be observed as variable degrees of hemisphere[]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[] Also note microphthalmos, short palpebral fissures, small mouth, micrognathia, and low-set malformed ears. (From Esmer et al. 2000) Syndromic Craniosynostosis.[] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[]

  • 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[] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[]

  • Meckel Syndrome

    Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[] Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[] M Warburg, Classification of microphthalmos and coloboma., Journal of Medical Genetics, 10.1136/jmg.30.8.664, 30, 8, (664-669), (1993). H.M. Ramadani and H.A.[]

    Missing: Syndactyly between Adjacent Toes
  • Colobomatous Microphthalmia

    Isolated anophthalmia - microphthalmia Isolated Klippel-Feil syndrome Alobar holoprosencephaly Lobar holoprosencephaly Microform holoprosencephaly Midline interhemispheric[] Nanophthalmos and posterior microphthalmos belong to another spectrum of disease, sometimes termed simple microphthalmos.[] […] upstream expression of sonic hedgehog (SHH) controls Pax2 expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly[]

    Missing: Syndactyly between Adjacent Toes
  • Anophthalmia - Microphthalmia Syndrome

    2 HPE2 157170 Genetic Test Registry Holoprosencephaly 3 HPE3 HLP3 142945 Genetic Test Registry Holoprosencephaly 5 HPE5 609637 Genetic Test Registry Microphthalmia With Limb[] Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[] […] syndrome Goldenhar syndrome Gorlin syndrome Lenz syndrome microphthalmia microcephaly syndrome Pierre Robin syndrome Treacher Collins syndrome non aneuploidic non syndromic holoprosencephaly[]

    Missing: Syndactyly between Adjacent Toes
  • Microphthalmos

    […] syndrome Goldenhar syndrome Gorlin syndrome Lenz syndrome microphthalmia microcephaly syndrome Pierre Robin syndrome Treacher Collins syndrome non aneuploidic non syndromic holoprosencephaly[] The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected.[] Holoprosencephaly non - syndromic (nonsyndromic holoprosencephaly). In these patients, as well as affected eye development, not the two cerebral hemispheres are divided.[]

    Missing: Syndactyly between Adjacent Toes
  • 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[] This case represents the rare association of septo-optic dysplasia with complex microphthalmos.[] […] conditions such as: Aqueductal stenosis Kallmann’s syndrome Chiari II malformation Lobar holoprosencephaly Rhomboencephalosynapsis Dysgenesis of corpus callosum Dysgenesis of the microphthalmos[]

    Missing: Syndactyly between Adjacent Toes
  • Pierre Robin Syndrome

    MRI or CT scans of the head may reveal a holoprosencephaly or other brain related problems (Rosa et al. 2011 ).[] "Holoprosencephaly and hypognathia with two proboscides: report of a case and review of unusual proboscides".[] 目次を表示 1 頭部・顔面の異常を主徴とする症候群 全前脳胞症シークエンス : Holoprosencephaly sequence Treacher Collins症候群 : Treacher Collins syndrome Noonan症候群 : Noonan syndrome 瞼裂狭小症候群 : Blepharophimosis syndrome[]

    Missing: Syndactyly between Adjacent Toes
  • Fraser Syndrome

    ., PALMER CG — The face predicts the brain : diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). ‎[] Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[] 55 and polymicrogyria or abnormal brain gyri were seen in three cases. 4 Two patients had encephaloceles. 39, 65 Other single findings were mild cerebellar hypoplasia, 16 holoprosencephaly[]

    Missing: Syndactyly between Adjacent Toes