Tetra-amelia

A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.



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Narrow down the case reports



Total: 7 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 9028456
 Tetra-amelia and splenogonadal fusion in Roberts syndrome.
de Ravel TJ, Seftel MD, Wright CA.
Am J Med Genet. 1997;68(2):185-9.
Micrognathia
Chromosome Aberrations Cleft Palate Ectromelia Females Homo sapiens Infant, Newborn Micrognathism Ovary Spleen Syndrome
2
(57.7%)		 9147883
 Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
Song SY, Chi JG.
Clin Genet. 1996;50(6):502-4.
Encephalocele Phocomelia
Congenital Heart Defects Ectromelia Fatal Outcome Females Gestational Age Head Homo sapiens Male Pregnancy Syndrome
3
(43.2%)		 3681906
 Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.
Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N.
J Med Genet. 1987;24(10):609-12.
Sacral dimple High, narrow palate Hypoplastic lacrimal duct
Chromosome Aberrations Ectodermal Dysplasia Ectromelia Females Genes, Recessive Genetic Counseling Homo sapiens Infant Infant, Newborn Intellectual Disability Lacrimal Apparatus Male Syndrome
4
(31.0%)		 20625748
 Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.
Ragavan M, Reddy S, Kumar C.
Pediatr Surg Int. 2010;26(10):1049-52.
Syndactyly
Craniofacial Abnormalities Differential Diagnosis Ectromelia Fatal Outcome Females Homo sapiens Infant Infant, Newborn Lung Magnetic Resonance Imaging Male
5
(4.0%)		 29985838
 Collaborative Establishment of Difficult Vascular Access for General Anesthetic Management of an Adult With Tetra-Amelia: A Case Report.
Horn MP, Khaja MS, Stucken EZ, Saad WE.
A A Pract. 2018;11(12):353-355.
Cholesteatoma
Adult Cholesteatoma Ectromelia Females Fluoroscopy General Anesthesia Homo sapiens
5
(4.0%)		 18837045
 Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.
Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Levy N, Carreira IM, Couceiro AB, Saraiva JM.
Am J Med Genet A. 2008;146A(21):2799-803.
Bilateral lung agenesis
Cleft Palate Ectromelia Females Fetus Genes, Recessive Homo sapiens Lung Phenotype Pregnancy Syndrome
5
(4.0%)		 12072798
 Microgastria-limb reduction anomaly with total amelia.
Stewart C, Stewart M, Stewart F.
Clin Dysmorphol. 2002;11(3):187-90.
Microgastria
Ectromelia Females Homo sapiens Infant, Newborn Stomach
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0000347 Micrognathia 1
HP:0000414 Bulbous nose 1
HP:0000960 Sacral dimple 1
HP:0002705 High, narrow palate 1
HP:0004467 Preauricular pit 1
HP:0005944 Bilateral lung agenesis 1
HP:0007900 Hypoplastic lacrimal duct 1
HP:0009797 Cholesteatoma 1
HP:0025410 Splenogonadal fusion 1
HP:0100841 Microgastria 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID