MCID: PHC014
MIFTS: 22

Phocomelia

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Phocomelia

MalaCards integrated aliases for Phocomelia:

Name: Phocomelia 53 29

Classifications:



Summaries for Phocomelia

NIH Rare Diseases : 53 Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the condition ranges from a single limb to both upper and lower limbs. In many cases, the underlying cause of phocomelia is poorly understood. It can be inherited as part of a genetic syndrome. Phocomelia can also be caused by maternal exposure to certain drugs (such as thalidomide) during pregnancy. There is no specific treatment for phocomelia. However, if it is part of a genetic syndrome, surgical intervention may be recommended for associated malformations.

MalaCards based summary : Phocomelia is related to sc phocomelia syndrome and dk phocomelia syndrome. An important gene associated with Phocomelia is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2). Affiliated tissues include bone and myeloid.

Wikipedia : 76 Phocomelia is a condition that involves malformations of the arms and legs. Although many factors can... more...

Related Diseases for Phocomelia

Diseases in the Phocomelia family:

Dk Phocomelia Syndrome Sc Phocomelia Syndrome

Diseases related to Phocomelia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 sc phocomelia syndrome 33.3 CCDC25 ESCO2
2 dk phocomelia syndrome 12.6
3 roberts syndrome 12.2
4 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.1
5 phocomelia ectrodactyly deafness sinus arrhythmia 12.1
6 ulna and fibula, absence of, with severe limb deficiency 12.1
7 tetraamelia multiple malformations x-linked 11.4
8 tetraamelia-multiple malformations syndrome 11.4
9 acrofacial dysostosis 1, nager type 11.2
10 steinfeld syndrome 11.0
11 acrofacial dysostosis syndrome of rodriguez 11.0
12 renal dysplasia-limb defects syndrome 11.0
13 fetal thalidomide syndrome 11.0
14 thrombocytopenia 10.2
15 split-hand/foot malformation 1 10.1
16 isolated split hand-split foot malformation 10.1
17 synostosis 10.0
18 encephalocele 10.0
19 arteries, anomalies of 9.9
20 cleft palate, isolated 9.9
21 radioulnar synostosis 9.9
22 renal hypodysplasia/aplasia 1 9.9
23 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.9
24 choanal atresia, posterior 9.9
25 coronary artery anomaly 9.9
26 hemangioma 9.9
27 pancytopenia 9.9
28 melanoma 9.9
29 dysostosis 9.9
30 cranial nerve palsy 9.9
31 hypotrichosis 9.9
32 cocaine abuse 9.9
33 cleft lip 9.9
34 congenital radioulnar synostosis 9.9
35 exencephaly 9.9
36 humeroradioulnar synostosis 9.9
37 pentalogy of cantrell 9.9
38 vacterl hydrocephaly 9.9
39 cleft lip/palate 9.9

Graphical network of the top 20 diseases related to Phocomelia:



Diseases related to Phocomelia

Symptoms & Phenotypes for Phocomelia

Drugs & Therapeutics for Phocomelia

Search Clinical Trials , NIH Clinical Center for Phocomelia

Genetic Tests for Phocomelia

Genetic tests related to Phocomelia:

# Genetic test Affiliating Genes
1 Phocomelia 29

Anatomical Context for Phocomelia

MalaCards organs/tissues related to Phocomelia:

41
Bone, Myeloid

Publications for Phocomelia

Articles related to Phocomelia:

(show top 50) (show all 116)
# Title Authors Year
1
Complex Anatomic Abnormalities of the Lower Leg Muscles and Tendons Associated With Phocomelia: A Case Report. ( 28818476 )
2017
2
Real-time measurement of blood pressure with Nexfin in a patient with thalidomide-related phocomelia. ( 27687383 )
2016
3
Tetra-phocomelia: the seal limb deformity - a case report. ( 25859493 )
2015
4
Tetra-phocomelia: a rarest of rare case. ( 25954680 )
2015
5
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. ( 25899150 )
2015
6
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. ( 24995190 )
2014
7
A rare case of suprahepatic gall bladder with phocomelia and pancytopenia: detected by tc-99m mebrofenin scintigraphy. ( 23961256 )
2013
8
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). ( 23727605 )
2013
9
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. ( 24971102 )
2013
10
Treatment of coronary artery disease via MIDCAB in a patient with severe thalidomide phocomelia. ( 23917409 )
2013
11
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). ( 22694322 )
2012
12
Anaesthesia and orphan disease: phocomelia--a lesson from the past. ( 22472624 )
2012
13
Isolated lower limb phocomelia - a rare limb malformation. ( 23399971 )
2012
14
Carbamazepine use in pregnancy and coincidental thalidomide-like phocomelia in a newborn. ( 22663328 )
2012
15
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. ( 22002800 )
2011
16
Phocomelia: Case report and differential diagnosis. ( 27307936 )
2011
17
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. ( 21358540 )
2011
18
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. ( 22044369 )
2011
19
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. ( 20101700 )
2010
20
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. ( 19878742 )
2010
21
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. ( 20949531 )
2010
22
A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning. ( 19553938 )
2009
23
Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis. ( 19530188 )
2009
24
Four limb phocomelia. ( 18334799 )
2008
25
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. ( 16826533 )
2006
26
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. ( 16380922 )
2005
27
Upper-extremity phocomelia reexamined: a longitudinal dysplasia. ( 16322613 )
2005
28
Cellular anomalies underlying retinoid-induced phocomelia. ( 15336718 )
2004
29
Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy. ( 14745934 )
2003
30
The classification of phocomelia. ( 12809650 )
2003
31
Renal replacement therapy in a patient with phocomelia. ( 14594970 )
2003
32
Upper limb phocomelia associated with increased nuchal translucency in a monochorionic twin pregnancy. ( 11883548 )
2002
33
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1). ( 12002154 )
2002
34
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. ( 12210314 )
2002
35
Association of ectrodactyly and distal phocomelia. ( 12416640 )
2002
36
Roberts-SC phocomelia syndrome. ( 11450388 )
2001
37
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. ( 11746009 )
2001
38
Management of an infant with cleft lip and palate with phocomelia in dental practice. ( 11601183 )
2000
39
Shoulder joint replacement for osteoarthrosis in association with thalidomide-induced phocomelia. ( 10392652 )
1999
40
Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia. ( 10422009 )
1999
41
VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community. ( 9128933 )
1997
42
DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). ( 9415466 )
1997
43
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? ( 9147883 )
1996
44
Picture of the month. Roberts-SC phocomelia syndrome. ( 8646318 )
1996
45
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. ( 8832138 )
1996
46
Zimmer phocomelia: delineation by principal coordinate analysis. ( 8957512 )
1996
47
Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome? ( 8740915 )
1996
48
Cyclophosphamide-induced apoptosis induces phocomelia in the mouse. ( 8870961 )
1996
49
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. ( 7558058 )
1995
50
Three-dimensional ultrasound in diagnosing phocomelia. ( 7600204 )
1995

Variations for Phocomelia

Expression for Phocomelia

Search GEO for disease gene expression data for Phocomelia.

Pathways for Phocomelia

GO Terms for Phocomelia

Sources for Phocomelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....