Holoprosencephaly-radial heart renal anomalies syndrome

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.



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Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.6%)		 20583155
 Steinfeld syndrome: Further delineation.
Stevens CA.
Am J Med Genet A. 2010;152A(7):1789-92.
Phocomelia
Congenital Hand Deformities Females Fetus Homo sapiens Limb Deformities, Congenital Male Syndrome Young Adult
1
(43.6%)		 9128933
 VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community.
Lurie IW, Ferencz C.
Am J Med Genet. 1997;70(2):144-9.
Anal atresia Phocomelia
Brain Cleft Palate Congenital Heart Defects Ectromelia Females Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Phenotype Rectum X Chromosome
3
(37.8%)		 26728615
 Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA.
Am J Med Genet A. 2016;170(3):754-9.
Hypotelorism Elbow dislocation Hypoplastic radial head
CDON
Amino Acid Sequence Brain Cell Adhesion Molecules Congenital Heart Defects Facies Females Heterozygote Holoprosencephaly Homo sapiens Limb Deformities, Congenital Magnetic Resonance Imaging Missense Mutation Models, Molecular Molecular Sequence Data Phenotype Protein Conformation Tumor Suppressor Proteins Young Adult
4
(32.1%)		 8357025
 Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.
Nothen MM, Knopfle G, Fodisch HJ, Zerres K.
Am J Med Genet. 1993;46(4):467-70.
Microphthalmia Cleft lip
Embryonic and Fetal Development Genes, Dominant Holoprosencephaly Homo sapiens Male Syndrome
5
(4.0%)		 15779021
 Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions.
Siebert JR, Schoenecker KA, Resta RG, Kapur RP.
Am J Med Genet A. 2005;134(4):381-92.
Microgastria
Chromosome Aberrations Fatal Outcome Females Fetal Death Fluorescent in Situ Hybridization Gestational Age Holoprosencephaly Homo sapiens Infant, Newborn Leg Limb Deformities, Congenital Male Syndrome
5
(4.0%)		 15329833
 Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
McPherson E, Huff D, Dunn J, Muenke M.
Birth Defects Res A Clin Mol Teratol. 2004;70(8):537-44.
Coloboma
ZIC2
Embryonic Development Females Homo sapiens Leg Male Pregnancy Prosencephalon Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000356 Abnormality of the outer ear Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0001360 Holoprosencephaly Very frequent (99-80%)
HP:0009927 Aplasia of the nose Very frequent (99-80%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0002984 Hypoplasia of the radius Frequent (79-30%)
HP:0003022 Hypoplasia of the ulna Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0009601 Aplasia/Hypoplasia of the thumb Frequent (79-30%)
HP:0011467 Absent gallbladder Frequent (79-30%)
HP:0000161 Median cleft lip Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000921 Missing ribs Occasional (29-5%)
HP:0001539 Omphalocele Occasional (29-5%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0001829 Foot polydactyly Occasional (29-5%)
HP:0002269 Abnormality of neuronal migration Occasional (29-5%)
HP:0002623 Overriding aorta Occasional (29-5%)
HP:0003063 Abnormality of the humerus Occasional (29-5%)
HP:0007744 obsolete Iridoretinal coloboma Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0009829 Phocomelia Occasional (29-5%)
HP:0009914 Cyclopia Occasional (29-5%)
HP:0100542 Abnormal localization of kidney Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0009829 Phocomelia 2
HP:0003042 Elbow dislocation 1
HP:0100841 Microgastria 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID