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2,438 Possible Causes for Holoprosencephaly, No Polydactyly, Onset of Renal Dysfunction in Early Childhood

  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] 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[ncbi.nlm.nih.gov] Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Pallister-Hall Syndrome

    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] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Partial Trisomy 13 in Patau Syndrome

    Key Words: Autopsy ; Trisomy ; Holoprosencephaly ; Karyotyping[jpatholtm.org] The absence of polydactyly, hernias, urogenital abnormalities, and haemangiomas contrast this condition with both trisomy 13 and duplication of 13q14-22-- qter.[ncbi.nlm.nih.gov] (60%), microcephaly, microphthalmia, cleft lip/palate, postaxial polydactyly (60%), omphalocele, heart defects, and renal anomalies.[clinicaladvisor.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Frontonasal Dysplasia

    Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[ncbi.nlm.nih.gov] […] superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Alobar Holoprosencephaly

    Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[ncbi.nlm.nih.gov] The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism[ncbi.nlm.nih.gov] One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. The other had the rare anatomical finding of a polylobuated spleen.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Meckel-Gruber Syndrome

    Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[ncbi.nlm.nih.gov] Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion.[ncbi.nlm.nih.gov] Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Smith Lemli Opitz Syndrome

    The diagnosis of alobar holoprosencephaly was confirmed at 15 weeks of gestation, and cardiac and limb defects were also identified.[ncbi.nlm.nih.gov] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia).[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    […] inversus syndrome Aicardi syndrome Aicardi-Goutières syndrome Albers-Schönberg osteopetrosis Albright hereditary osteodystrophy Allan-Herndon-Dudley syndrome Alobar holoprosencephaly[se-atlas.de] There is usually an association of polydactyly, with 6 metacarpals and 6 digits. When feet are involved, they usually show complete fusion of all toes.[en.youscribe.com] […] type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 GMPPB Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital[genda.com.ar]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[ajnr.org] Syndrome Holoprosencephaly-Radial Heart Renal Anomalies Syndrome Hypogonadotropic Hypogonadism 3 With Or Without Anosmia Intellectual Disability-Polydactyly-Uncombable Hair[familydiagnosis.com] Everman ; Introduction ; Polydactyly ; 2.1a Preaxial Polydactyly ; 2.1b Postaxial Polydactyly ; 2.1c Mesoaxial Polydactyly ; Syndactyly ; 2.2a Syndactyly Type I ; 2.2b Syndactyly[geneeskundeboek.nl]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Semilobar holoprosencephaly. Severe Expression of the Genoa Syndrome?[dev.docslide.net] Type Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Craniotelencephalic Dysplasia Crouzon syndrome Dandy Walker Cyst Dandy Walker Malformation Postaxial Polydactyly[rgd.mcw.edu] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de]

    Missing: Onset of Renal Dysfunction in Early Childhood

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