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 56 52 71
Holoprosencephaly-Postaxial Polydactyly Syndrome 58
Holoprosencephaly-Polydactyly Syndrome 56
Holoprosencephaly Polydactyly Syndrome 52
Pseudo Trisomy 13 Syndrome 52
Pseudo-Trisomy 13 Syndrome 58
Young-Maders Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
holoprosencephaly-postaxial polydactyly syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
pseudotrisomy 13 syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pseudotrisomy 13 Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2166 Definition 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). Epidemiology Incidence is unknown. Clinical description Dysmorphic 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 diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring. Genetic counseling The condition seems to be inherited as an autosomal recessive trait . Prognosis Prognosis 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, heart and uterus, and related phenotypes are microphthalmia and hypoplasia of penis

More information from OMIM: 264480

Related Diseases for Pseudotrisomy 13 Syndrome

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:

58 31 (showing 58, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
2 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
3 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
4 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
5 hypoplasia of the premaxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0010650
6 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
7 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
8 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
11 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
12 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
13 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
14 holoprosencephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001360
15 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
16 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
17 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
18 thyroid hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0005990
19 abnormal lung lobation 58 31 frequent (33%) Frequent (79-30%) HP:0002101
20 adrenal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000835
21 abnormality of the hypothalamus-pituitary axis 58 31 frequent (33%) Frequent (79-30%) HP:0000864
22 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
23 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
24 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
25 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
26 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
27 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
28 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
29 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
30 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
31 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
32 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
33 cyclopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009914
34 absent nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0100596
35 low-set ears 31 HP:0000369
36 agenesis of corpus callosum 31 HP:0001274
37 ventricular septal defect 31 HP:0001629
38 generalized hypotonia 31 HP:0001290
39 malformation of the heart and great vessels 58 Frequent (79-30%)
40 atrial septal defect 31 HP:0001631
41 coarctation of aorta 31 HP:0001680
42 posteriorly rotated ears 31 HP:0000358
43 micropenis 31 HP:0000054
44 upslanted palpebral fissure 31 HP:0000582
45 2-3 toe syndactyly 31 HP:0004691
46 hemivertebrae 31 HP:0002937
47 renal hypoplasia 31 HP:0000089
48 tricuspid atresia 31 HP:0011662
49 abnormality of the respiratory system 31 HP:0002086
50 polymicrogyria 31 HP:0002126
51 postaxial foot polydactyly 31 HP:0001830
52 oral cleft 58 Frequent (79-30%)
53 dextrocardia 31 HP:0001651
54 median cleft lip and palate 31 HP:0008501
55 renal agenesis 31 HP:0000104
56 bicornuate uterus 31 HP:0000813
57 11 pairs of ribs 31 HP:0000878
58 complete atrioventricular canal defect 31 HP:0001674

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
polymicrogyria
encephalocele
hypotonia
more
Cardiovascular Heart:
ventricular septal defect
atrial septal defect
coarctation of aorta
tricuspid atresia
dextrocardia
more
Head And Neck Eyes:
microphthalmia
hypotelorism
upslanting palpebral fissures
cyclopia (5%)

Skeletal Feet:
2-3 toe syndactyly
postaxial polydactyly

Genitourinary Kidneys:
renal hypoplasia
renal agenesis

Endocrine Features:
adrenal hypoplasia

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Head And Neck Ears:
posteriorly rotated ears
low set ears

Skeletal Spine:
hemivertebrae

Abdomen External Features:
omphalocele

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

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:

40
Eye, Heart, Uterus, Kidney, Lung, Thyroid, Hypothalamus

Publications for Pseudotrisomy 13 Syndrome

Articles related to Pseudotrisomy 13 Syndrome:

(showing 20, show less)
# Title Authors PMID Year
1
Pseudotrisomy 13 syndrome in siblings. 61 56
10826623 2000
2
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly. 61 56
8010349 1994
3
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. 61 56
1865466 1991
4
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. 56
16865294 2006
5
Pseudotrisomy 13 and autosomal recessive holoprosencephaly. 56
8301659 1993
6
Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. 56
8418661 1993
7
Familial holoprosencephaly, heart defects, and polydactyly. 56
1785646 1991
8
Pseudo-trisomy 13 syndrome. 56
1867286 1991
9
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. 56
2407847 1990
10
Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13? 56
2766571 1989
11
Holoprosencephaly and postaxial polydactyly: another observation. 56
3172147 1988
12
Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly. 56
3430550 1987
13
Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria. 61
22432933 2012
14
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes. 61
21756987 2011
15
Holoprosencephaly-Polydactyly syndrome: in search of an etiology. 61
18178536 2008
16
Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis. 61
16317308 2006
17
Pseudotrisomy 13: clinical findings and genetic implications. 61
16260883 2005
18
"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum. 61
8135289 1993
19
Pseudotrisomy 13 syndrome. 61
1605265 1992
20
Pseudotrisomy 13 syndrome. 61
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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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