MCID: PSD046
MIFTS: 29

Pseudotrisomy 13 Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pseudotrisomy 13 Syndrome

MalaCards integrated aliases for Pseudotrisomy 13 Syndrome:

Name: Pseudotrisomy 13 Syndrome 58 54 74
Holoprosencephaly-Postaxial Polydactyly Syndrome 60
Holoprosencephaly-Polydactyly Syndrome 58
Holoprosencephaly Polydactyly Syndrome 54
Pseudo Trisomy 13 Syndrome 54
Pseudo-Trisomy 13 Syndrome 60
Young-Maders Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
holoprosencephaly-postaxial polydactyly syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
sex ratio - 2.3 males-to-1 female


HPO:

33
pseudotrisomy 13 syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pseudotrisomy 13 Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2166Disease definitionHoloprosencephaly-postaxial polydactylysyndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).EpidemiologyIncidence is unknown.Clinical descriptionDysmorphic features include hypotelorism, severe eye anomalies such as microphtalmia or anophtalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common.Antenatal diagnosisAntenatal diagnosis is possible by ultrasonographic monitoring.Genetic counselingThe condition seems to be inherited as an autosomal recessivetrait.PrognosisPrognosis is poor.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pseudotrisomy 13 Syndrome, also known as holoprosencephaly-postaxial polydactyly syndrome, is related to polydactyly and holoprosencephaly. Affiliated tissues include eye, uterus and kidney, and related phenotypes are microphthalmia and hypoplasia of penis

Description from OMIM: 264480

Related Diseases for Pseudotrisomy 13 Syndrome

Diseases related to Pseudotrisomy 13 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly 10.4
2 holoprosencephaly 10.4
3 patau syndrome 10.3
4 glaucoma 3, primary congenital, a 10.1
5 alobar holoprosencephaly 10.1
6 duodenal atresia 10.1

Graphical network of the top 20 diseases related to Pseudotrisomy 13 Syndrome:



Diseases related to Pseudotrisomy 13 Syndrome

Symptoms & Phenotypes for Pseudotrisomy 13 Syndrome

Human phenotypes related to Pseudotrisomy 13 Syndrome:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
2 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
3 hypotelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000601
4 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
5 hypoplasia of the premaxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0010650
6 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
7 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
8 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
9 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
10 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
11 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
12 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
13 anal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0002023
14 holoprosencephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001360
15 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
16 aplasia/hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0007370
17 thyroid hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0005990
18 abnormal lung lobation 60 33 frequent (33%) Frequent (79-30%) HP:0002101
19 adrenal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000835
20 abnormality of the hypothalamus-pituitary axis 60 33 frequent (33%) Frequent (79-30%) HP:0000864
21 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
22 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
23 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
24 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
25 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
26 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
27 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
28 intestinal malrotation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002566
29 abnormal localization of kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0100542
30 talipes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001883
31 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084
32 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
33 cyclopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0009914
34 absent nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0100596
35 low-set ears 33 HP:0000369
36 agenesis of corpus callosum 33 HP:0001274
37 malformation of the heart and great vessels 60 Frequent (79-30%)
38 atrial septal defect 33 HP:0001631
39 coarctation of aorta 33 HP:0001680
40 upslanted palpebral fissure 33 HP:0000582
41 renal hypoplasia 33 HP:0000089
42 ventricular septal defect 33 HP:0001629
43 tricuspid atresia 33 HP:0011662
44 abnormality of the cardiac septa 60 Frequent (79-30%)
45 hemivertebrae 33 HP:0002937
46 abnormality of the respiratory system 33 HP:0002086
47 polymicrogyria 33 HP:0002126
48 postaxial foot polydactyly 33 HP:0001830
49 oral cleft 60 Frequent (79-30%)
50 dextrocardia 33 HP:0001651

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
polymicrogyria
encephalocele
hypotonia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
microphthalmia
hypotelorism
upslanting palpebral fissures
cyclopia (5%)

Skeletal Spine:
hemivertebrae

Endocrine Features:
adrenal hypoplasia

Skeletal Feet:
2-3 toe syndactyly
postaxial polydactyly

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Abdomen Gastrointestinal:
imperforate anus

Laboratory Abnormalities:
normal karyotype

Head And Neck Mouth:
medial cleft lip and palate (59%)
lateral cleft lip

Head And Neck Head:
microcephaly

Cardiovascular Heart:
atrial septal defect
coarctation of aorta
ventricular septal defect
tricuspid atresia
dextrocardia
more
Genitourinary Kidneys:
renal hypoplasia
renal agenesis

Abdomen External Features:
omphalocele

Genitourinary Internal Genitalia Female:
bicornuate uterus
uterine hypoplasia
duplicate uterus
duplicate vagina

Head And Neck Ears:
posteriorly rotated ears
low set ears

Skeletal Hands:
postaxial polydactyly

Genitourinary External Genitalia Male:
small penis
deep scrotal raphe

Head And Neck Face:
cebocephaly (36%)

Respiratory Lung:
malsegmentation

Clinical features from OMIM:

264480

Drugs & Therapeutics for Pseudotrisomy 13 Syndrome

Search Clinical Trials , NIH Clinical Center for Pseudotrisomy 13 Syndrome

Genetic Tests for Pseudotrisomy 13 Syndrome

Anatomical Context for Pseudotrisomy 13 Syndrome

MalaCards organs/tissues related to Pseudotrisomy 13 Syndrome:

42
Eye, Uterus, Kidney, Pituitary, Thyroid, Hypothalamus, Heart

Publications for Pseudotrisomy 13 Syndrome

Articles related to Pseudotrisomy 13 Syndrome:

# Title Authors Year
1
Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria. ( 22432933 )
2012
2
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes. ( 21756987 )
2011
3
Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis. ( 16317308 )
2006
4
Pseudotrisomy 13 syndrome in siblings. ( 10826623 )
2000
5
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly. ( 8010349 )
1994
6
"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum. ( 8135289 )
1993
7
Pseudotrisomy 13 syndrome. ( 1605265 )
1992
8
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. ( 1865466 )
1991
9
Pseudotrisomy 13 syndrome. ( 2248307 )
1990

Variations for Pseudotrisomy 13 Syndrome

Expression for Pseudotrisomy 13 Syndrome

Search GEO for disease gene expression data for Pseudotrisomy 13 Syndrome.

Pathways for Pseudotrisomy 13 Syndrome

GO Terms for Pseudotrisomy 13 Syndrome

Sources for Pseudotrisomy 13 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....