Holoprosencephaly-postaxial polydactyly syndrome

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(53.3%)		 18773678
 Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.
Utine GE, Alanay Y, Aktas D, Talim B, Kale G, Tuncbilek E.
Turk J Pediatr. 2008;50(3):287-90.
Polydactyly Cleft lip
Adult Chromosomes, Human, Pair 13 Females Genes, Recessive Holoprosencephaly Homo sapiens Polydactyly Pregnancy Trisomy
2
(31.0%)		 22432933
 Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.
Sergi C, Gekas J, Kamnasaran D.
Fetal Pediatr Pathol. 2012;31(5):315-8.
Polydactyly
GLI3 SHH SIX3 TGIF1 ZIC2
Abortion, Eugenic Adult Chromosome Banding Chromosomes, Human, Pair 13 Congenital Hand Deformities DNA Mutational Analysis Differential Diagnosis Fatal Outcome Females Fetal Macrosomia Holoprosencephaly Homo sapiens Male Mutation Polydactyly Trisomy Trisomy 13 Syndrome Ultrasonography, Prenatal
2
(31.0%)		 1867286
 Pseudo-trisomy 13 syndrome.
Cohen MM Jr, Gorlin RJ.
Am J Med Genet. 1991;39(3):332-5; discussion 336-7.
Postaxial polydactyly
Chromosomes, Human, Pair 13 Differential Diagnosis Females Genes, Recessive Holoprosencephaly Homo sapiens Infant, Newborn Male Pregnancy Syndrome Trisomy
2
(31.0%)		 1481825
 Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.
Boles RG, Teebi AS, Neilson KA, Meyn MS.
Am J Med Genet. 1992;44(5):638-40.
Postaxial polydactyly
Child, Preschool Chromosomes, Human, Pair 13 Differential Diagnosis Females Holoprosencephaly Homo sapiens Infant, Newborn Syndrome Toes Trisomy
2
(31.0%)		 1306929
 Pseudo-trisomy 13 syndrome: report of one case.
Tsai FJ, Tsai CH.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992;33(6):441-5.
Postaxial polydactyly
Chromosomes, Human, Pair 13 Face Females Holoprosencephaly Homo sapiens Infant, Newborn Limb Deformities, Congenital Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0010650 Hypoplasia of the premaxilla Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000835 Adrenal hypoplasia Frequent (79-30%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001360 Holoprosencephaly Frequent (79-30%)
HP:0001671 Abnormal cardiac septum morphology Frequent (79-30%)
HP:0002023 Anal atresia Frequent (79-30%)
HP:0002101 Abnormal lung lobation Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0005990 Thyroid hypoplasia Frequent (79-30%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001321 Cerebellar hypoplasia Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001539 Omphalocele Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002084 Encephalocele Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0009914 Cyclopia Occasional (29-5%)
HP:0100542 Abnormal localization of kidney Occasional (29-5%)
HP:0100596 Absent nares Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0010442 Polydactyly 2
HP:0100259 Postaxial polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID