MCID: PHC014
MIFTS: 20

Phocomelia

Categories: Rare diseases, Fetal diseases, Blood diseases, Genetic 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.

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

Related Diseases for Phocomelia

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

Publications for Phocomelia

Articles related to Phocomelia:

(show top 50) (show all 54)
# 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
Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy. ( 14745934 )
2003
28
Roberts-SC phocomelia syndrome. ( 11450388 )
2001
29
VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community. ( 9128933 )
1997
30
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? ( 9147883 )
1996
31
Picture of the month. Roberts-SC phocomelia syndrome. ( 8646318 )
1996
32
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. ( 8832138 )
1996
33
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. ( 7558058 )
1995
34
Roberts-SC phocomelia syndrome: a case with additional anomalies. ( 8004795 )
1994
35
DK-phocomelia syndrome in a child with a long follow-up. ( 7810557 )
1994
36
Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? ( 1605264 )
1992
37
Roberts-SC phocomelia syndrome in a baboon (Papio anubis). ( 1460857 )
1992
38
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. ( 1741870 )
1991
39
A sibship with Roberts/SC phocomelia syndrome. ( 2240038 )
1990
40
Roberts-SC phocomelia syndrome with exencephaly. ( 2817778 )
1989
41
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. ( 2658590 )
1989
42
Roberts syndrome and SC phocomelia. A single genetic entity. ( 3568444 )
1987
43
Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity? ( 3146295 )
1986
44
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. ( 3740099 )
1986
45
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. ( 3788975 )
1986
46
Humeroradioulnar synostosis appearing as distal humeral bifurcation in a patient with distal phocomelia of the upper limbs and radial ectrodactyly. ( 6465206 )
1984
47
Roberts'--SC phocomelia syndrome with cytogenetic findings. ( 7106776 )
1982
48
A case of SC-phocomelia syndrome with nonrandom centromere separation. ( 7163280 )
1982
49
Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities. ( 6106133 )
1980
50
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). ( 495649 )
1979

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
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