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1,507 Possible Causes for Holoprosencephaly, Mutation in the LMBR1 Gene, 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: Mutation in the LMBR1 Gene
  • 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] 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] In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly.[ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene
  • Patau Syndrome

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

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Polydactyly

    A number of mutations of the LMBR1 gene, in dogs, humans, and mice, can cause polydactyly. [67] A 2014 report indicated that mice could also exhibit polydactyly arising from[en.wikipedia.org] Specific diagnostic criteria for holoprosencephaly-polydactyly syndrome need to be complemented by the absence of mutations in the major holoprosencephaly genes.[ncbi.nlm.nih.gov] The hemimelic extra toes ( Hx ) mutation has a similar phenotype to Ssq ( 19 ) and a critical region that includes Lmbr1 and the downstream Rnf32 gene.[doi.org]

    Missing: Syndactyly between Adjacent Toes
  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[ajnr.org] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[link.springer.com] Holoprosencephaly: defects of the mediobasal prosencephalon.[jmg.bmj.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Cyclopia

    These findings are characteristic of alobar holoprosencephaly.[ncbi.nlm.nih.gov] In alobar holoprosencephaly there is limited formation of the anterior portion of the brain.[appliedradiology.com] We report on the ultrasound (US) detection of holoprosencephaly with cyclopia at a gestational age of 16 weeks.[ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Syndactyly

    Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Definition (MSH) A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[fpnotebook.com]

    Missing: Holoprosencephaly
  • Alobar Holoprosencephaly

    Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[ncbi.nlm.nih.gov] The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed[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]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Chromosome 18p Deletion Syndrome

    We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly[agris.fao.org] MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and alobar holoprosencephaly.[malacards.org] holoprosencephaly, single nostril as present in our case. [1], [4] The severity of holoprosencephaly varies from cyclopy to facial malformations with a central incisor.[jisppd.com]

    Missing: Mutation in the LMBR1 Gene 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[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: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes