POSHS
MCID: PTC001
MIFTS: 34

Potocki-Shaffer Syndrome (POSHS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

MalaCards integrated aliases for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 57 53 25 59 74 29 13 55
Chromosome 11p11.2 Deletion Syndrome 57 25 74 72
Proximal 11p Deletion Syndrome 57 53 25 59
11p11.2 Deletion 53 59
P11pds 57 25
Pss 57 53
Proximal 11p Deletion Syndrome; P11pds 57
Deletion of Chromosome 11p11.2 53
Syndrome, Potocki-Shaffer 40
Defect11 Syndrome 57
Poshs 74

Characteristics:

Orphanet epidemiological data:

59
potocki-shaffer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
contiguous gene syndrome (11p13-p11 region)


HPO:

32
potocki-shaffer syndrome:
Inheritance contiguous gene syndrome


Classifications:



External Ids:

OMIM 57 601224
MeSH 44 D002872
MESH via Orphanet 45 C538356
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C1832588
Orphanet 59 ORPHA52022
MedGen 42 C1832588
UMLS 72 C1832588

Summaries for Potocki-Shaffer Syndrome

NIH Rare Diseases : 53 Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign (non-cancerous) bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism spectrum disorder, and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. Multiple other features or health problems have been reported in individual cases. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina (openings in the two bones that form the top and sides of the skull), while the loss of another gene, EXT2, causes the multiple exostoses (benign bone tumors). Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome.[ A referral to an early childhood intervention and developmental-behavioral specialist and evaluation for vision and hearing problems at the time of diagnosis is recommended. A full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, should also be completed.

MalaCards based summary : Potocki-Shaffer Syndrome, also known as chromosome 11p11.2 deletion syndrome, is related to parietal foramina and peeling skin syndrome 1. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, heart and kidney, and related phenotypes are global developmental delay and brachycephaly

Genetics Home Reference : 25 Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life. The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.

OMIM : 57 Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (605957) (summary by Swarr et al., 2010). (601224)

UniProtKB/Swiss-Prot : 74 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Wikipedia : 75 Potocki-Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome,... more...

Related Diseases for Potocki-Shaffer Syndrome

Diseases related to Potocki-Shaffer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 parietal foramina 30.3 PHF21A ALX4
2 peeling skin syndrome 1 12.2
3 peeling skin syndrome 12.1
4 generalized peeling skin syndrome 12.1
5 peeling skin syndrome 2 12.0
6 osteogenesis imperfecta, type xvi 11.6
7 parietal foramina 2 11.6
8 systemic scleroderma 11.6
9 peeling skin syndrome 3 11.4
10 peeling skin syndrome 5 11.4
11 peeling skin syndrome 6 11.4
12 peeling skin syndrome type a 11.2
13 scleroderma, familial progressive 10.8
14 alacrima, achalasia, and mental retardation syndrome 10.8
15 exostoses, multiple, type ii 10.6
16 hypotonia 10.6
17 exostosis 10.5
18 pathologic nystagmus 10.4
19 strabismus 10.4
20 gillespie syndrome 10.4
21 apraxia 10.4
22 sensorineural hearing loss 10.4
23 myopia 10.4
24 hereditary multiple exostoses 10.4
25 craniosynostosis 10.4
26 articulation disorder 10.4
27 mechanical strabismus 10.4
28 prostatic hyperplasia, benign 10.3
29 prostatic hypertrophy 10.3
30 prostatic adenoma 10.3
31 connective tissue disease 10.3
32 raynaud phenomenon 10.3
33 localized scleroderma 10.2
34 telangiectasis 10.1
35 thyroiditis 10.1
36 dysphagia 10.1
37 amyotrophic lateral sclerosis 1 10.1
38 ige responsiveness, atopic 10.1
39 parkinson disease, late-onset 10.1
40 mckusick-kaufman syndrome 10.1
41 frontotemporal dementia 10.1
42 body mass index quantitative trait locus 1 10.1
43 heart disease 10.1
44 dementia 10.1
45 lateral sclerosis 10.1
46 dermatitis 10.1
47 skin carcinoma 10.1
48 congestive heart failure 10.1
49 subacute delirium 10.1
50 autoimmune disease 10.1

Graphical network of the top 20 diseases related to Potocki-Shaffer Syndrome:



Diseases related to Potocki-Shaffer Syndrome

Symptoms & Phenotypes for Potocki-Shaffer Syndrome

Human phenotypes related to Potocki-Shaffer Syndrome:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 brachycephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000248
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
5 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
6 epicanthus 59 32 very rare (1%) Very frequent (99-80%) HP:0000286
7 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
8 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
9 depressed nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000437
10 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
11 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
12 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
13 short philtrum 59 32 very rare (1%) Frequent (79-30%) HP:0000322
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 micropenis 59 32 very rare (1%) Frequent (79-30%) HP:0000054
16 downturned corners of mouth 59 32 very rare (1%) Frequent (79-30%) HP:0002714
17 parietal foramina 59 32 very rare (1%) Frequent (79-30%) HP:0002697
18 craniofacial dysostosis 32 frequent (33%) HP:0004439
19 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
20 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
21 intellectual disability 59 32 very rare (1%) Occasional (29-5%) HP:0001249
22 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
23 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
24 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
25 cutaneous syndactyly between fingers 2 and 5 32 occasional (7.5%) HP:0005650
26 muscular hypotonia 32 very rare (1%) HP:0001252
27 wormian bones 32 very rare (1%) HP:0002645
28 telecanthus 32 very rare (1%) HP:0000506
29 brachydactyly 32 very rare (1%) HP:0001156
30 sparse lateral eyebrow 32 very rare (1%) HP:0005338
31 single transverse palmar crease 32 very rare (1%) HP:0000954
32 multiple exostoses 32 very rare (1%) HP:0002762
33 wide nasal bridge 32 HP:0000431
34 short nose 32 HP:0003196
35 broad forehead 32 HP:0000337
36 downslanted palpebral fissures 32 HP:0000494
37 turricephaly 32 HP:0000262
38 high forehead 32 HP:0000348
39 delayed cranial suture closure 32 HP:0000270
40 abnormality of the male genitalia 32 HP:0010461

Symptoms via clinical synopsis from OMIM:

57
Skull:
brachycephaly
turricephaly
craniofacial dysostosis
parietal foramina

Limbs:
cutaneous syndactyly between fingers 2 and 5

Skel:
multiple exostoses

Neuro:
mental retardation

Clinical features from OMIM:

601224

Drugs & Therapeutics for Potocki-Shaffer Syndrome

Search Clinical Trials , NIH Clinical Center for Potocki-Shaffer Syndrome

Genetic Tests for Potocki-Shaffer Syndrome

Genetic tests related to Potocki-Shaffer Syndrome:

# Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome 29

Anatomical Context for Potocki-Shaffer Syndrome

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

41
Bone, Heart, Kidney, Brain

Publications for Potocki-Shaffer Syndrome

Articles related to Potocki-Shaffer Syndrome:

(show all 32)
# Title Authors PMID Year
1
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. 9 38 8
11903336 2001
2
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. 38 8
22770980 2012
3
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. 38 8
20140962 2010
4
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. 38 8
15852040 2005
5
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. 38 8
15702131 2005
6
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. 38 8
15666301 2005
7
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 38 8
11137991 2001
8
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. 38 8
11017806 2000
9
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 8
16319823 2006
10
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. 8
9512164 1998
11
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. 8
9374397 1997
12
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. 8
8644736 1996
13
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). 8
8882796 1996
14
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). 8
8558565 1995
15
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. 8
8456828 1993
16
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 38
30487643 2019
17
Hypertension in Potocki-Shaffer syndrome: A case report. 38
30797056 2019
18
Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells. 38
28571721 2018
19
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. 38
28127865 2017
20
Congenital biparietal foramina presenting with multiple concussions. 38
27058439 2016
21
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. 38
26333423 2015
22
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. 38
25653495 2015
23
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 38
24376213 2014
24
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 38
23239541 2013
25
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. 38
22913728 2012
26
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. 38
22822387 2012
27
New information, recommendations for Potocki-Shaffer syndrome. 38
20186793 2010
28
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. 38
19222835 2009
29
Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature. 38
17290930 2007
30
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. 38
14872200 2004
31
Potocki-Shaffer syndrome: report of one case. 38
14674231 2003
32
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. 38
12457403 2002

Variations for Potocki-Shaffer Syndrome

Copy number variations for Potocki-Shaffer Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 52916 11 21600000 36400000 Deletion Potocki-Shaffer syndrome
2 53591 11 31000000 43400000 Deletion Potocki-Shaffer syndrome
3 53596 11 31000000 52900000 Deletion PAX6 Potocki-Shaffer syndrome
4 53598 11 31000000 52900000 Deletion WT1 Potocki-Shaffer syndrome
5 54383 11 43400000 48800000 Microdeletion Potocki-Shaffer syndrome

Expression for Potocki-Shaffer Syndrome

Search GEO for disease gene expression data for Potocki-Shaffer Syndrome.

Pathways for Potocki-Shaffer Syndrome

GO Terms for Potocki-Shaffer Syndrome

Molecular functions related to Potocki-Shaffer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 8.62 EXT2 ALX4

Sources for Potocki-Shaffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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