MCID: PHC014
MIFTS: 23

Phocomelia

Categories: Blood diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Phocomelia

MalaCards integrated aliases for Phocomelia:

Name: Phocomelia 20 29 6

Classifications:



Summaries for Phocomelia

GARD : 20 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 roberts-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 marrow, thymus and prostate.

Wikipedia : 73 Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can... more...

Related Diseases for Phocomelia

Diseases in the Phocomelia family:

Dk Phocomelia Syndrome

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

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 roberts-sc phocomelia syndrome 11.7
2 dk phocomelia syndrome 11.6
3 ulna and fibula, absence of, with severe limb deficiency 11.6
4 phocomelia ectrodactyly deafness sinus arrhythmia 11.2
5 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 11.2
6 tetraamelia syndrome 11.1
7 acrofacial dysostosis 1, nager type 11.0
8 fetal thalidomide syndrome 10.9
9 steinfeld syndrome 10.9
10 acrofacial dysostosis syndrome of rodriguez 10.9
11 renal dysplasia-limb defects syndrome 10.9
12 thrombocytopenia 10.2
13 amelia 10.2
14 thrombocytopenia-absent radius syndrome 10.2
15 autosomal recessive disease 10.2
16 cleft palate, isolated 10.1
17 microcephaly 10.1
18 synostosis 10.1
19 encephalocele 10.1
20 split-hand/foot malformation 1 10.1
21 hemangioma 10.1
22 esco2 spectrum disorder 10.1
23 isolated split hand-split foot malformation 10.1
24 scoliosis 10.0
25 chromosomal triplication 10.0
26 non-syndromic limb reduction defect 9.9
27 hypertelorism 9.9
28 anus, imperforate 9.9
29 cryptorchidism, unilateral or bilateral 9.9
30 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.9
31 branchiootic syndrome 1 9.9
32 hydrocephalus 9.9
33 hydronephrosis 9.9
34 cleft lip 9.9
35 arteries, anomalies of 9.8
36 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
37 gallbladder, agenesis of 9.8
38 hand skill, relative 9.8
39 diaphragmatic hernia, congenital 9.8
40 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8
41 pectus excavatum 9.8
42 telecanthus 9.8
43 renal hypodysplasia/aplasia 1 9.8
44 baller-gerold syndrome 9.8
45 hydrocephalus, congenital, 1 9.8
46 split-hand/foot malformation 3 9.8
47 tetraamelia syndrome 1 9.8
48 split-hand/foot malformation 2 9.8
49 thoracoabdominal syndrome 9.8
50 fryns microphthalmia syndrome 9.8

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:

40
Bone Marrow, Thymus, Prostate, Myeloid, Endothelial, Tongue

Publications for Phocomelia

Articles related to Phocomelia:

(show top 50) (show all 341)
# Title Authors PMID Year
1
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. 61
33717254 2021
2
New insights into the obligatory nature of cyclooxygenase-2 and PGE2 during early chick embryogenesis. 61
33454433 2021
3
Successful pregnancy outcome in two sisters with cerebral palsy and phocomelia: a case report and literature review. 61
33315162 2021
4
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. 61
32783269 2020
5
Pseudo-Roberts Syndrome: An Entity or Not? 61
33026893 2020
6
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome. 61
32449309 2020
7
Proximo-distal positional information encoded by an Fgf-regulated gradient of homeodomain transcription factors in the vertebrate limb. 61
32537491 2020
8
Microsurgical reconstruction of congenital upper extremity deformities of malformations. 61
32274021 2020
9
Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. 61
32255174 2020
10
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects. 61
32127157 2020
11
Poor balance, bilateral upper limb phocomelia, no previous exercise: a challenging combination for fall prevention in a middle-aged thalidomide survivor. 61
31969401 2020
12
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. 61
30590172 2019
13
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
14
Managing a Pregnancy With Maternal Amelia. 61
30969202 2019
15
Meeting Report: The Role of Beliefs and Perception on Body Size. Proceedings of the 26th Aschauer Soiree, Held at Aschauhof, Altenhof, Germany, May 26th, 2018. 61
30888128 2019
16
The teratogenic effects of thalidomide on limbs. 61
30335598 2019
17
SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrate. 61
30190590 2018
18
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. 61
30067223 2018
19
Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. 61
30024522 2018
20
Robotic assisted radical prostatectomy for localised prostate cancer in thalidomide generation. 61
28849319 2018
21
Congenital unilateral absence of the upper extremity may give rise to a specific kind of thoracolumbar curve. 61
28704301 2018
22
Complex Anatomic Abnormalities of the Lower Leg Muscles and Tendons Associated With Phocomelia: A Case Report. 61
28818476 2017
23
The Molecular Mechanisms of Thalidomide Teratogenicity and Implications for Modern Medicine. 61
28429672 2017
24
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 61
27642715 2016
25
Real-time measurement of blood pressure with Nexfin in a patient with thalidomide-related phocomelia. 61
27687383 2016
26
Expanding the mutation and clinical spectrum of Roberts syndrome. 61
26710928 2016
27
Shoulder joint replacement can improve quality of life and outcome in patients with dysmelia: a case series. 61
27117810 2016
28
Should women of childbearing potential be prescribed valproate? a call to action. 61
27137420 2016
29
Peripheral Nerve Dysfunction in Middle-Aged Subjects Born with Thalidomide Embryopathy. 61
27100829 2016
30
[Not Available]. 61
27344906 2016
31
The TRAP (twin reversed arterial perfusion) sequence - case presentation. 61
27151718 2016
32
Multicenter investigation of lifestyle-related diseases and visceral disorders in thalidomide embryopathy at around 50 years of age. 61
26033770 2015
33
Prenatal Detection of Upper Limb Differences With Obstetric Ultrasound. 61
26026354 2015
34
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. 61
25899150 2015
35
Tetra-phocomelia: a rarest of rare case. 61
25954680 2015
36
Thalidomide in dermatology: revisited. 61
25814738 2015
37
Tetra-phocomelia: the seal limb deformity - a case report. 61
25859493 2015
38
Intrapartum diagnostic of Roberts syndrome - case presentation. 61
26193234 2015
39
Treatment of Hepatic Epithelioid Hemangioendothelioma: Finding Uses for Thalidomide in a New Era of Medicine. 61
26167310 2015
40
[Thalidomide teratogenicity and its direct target identification]. 61
25626320 2015
41
Holt Oram syndrome: a registry-based study in Europe. 61
25344219 2014
42
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? 61
24715698 2014
43
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition? 61
24648351 2014
44
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. 61
24995190 2014
45
The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2. 61
24864645 2014
46
Nasa astronauts, prosthetics and the manned space program. 61
25405422 2014
47
Treatment of coronary artery disease via MIDCAB in a patient with severe thalidomide phocomelia. 61
23917409 2013
48
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). 61
23727605 2013
49
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. 61
24971102 2013
50
A rare case of suprahepatic gall bladder with phocomelia and pancytopenia: detected by tc-99m mebrofenin scintigraphy. 61
23961256 2013

Variations for Phocomelia

ClinVar genetic disease variations for Phocomelia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 25 genes Deletion Pathogenic 549857 GRCh37: 2:219925666-220914504
GRCh38:

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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