Tetraamelia-multiple malformations syndrome

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.6%)		 8957512
 Zimmer phocomelia: delineation by principal coordinate analysis.
Kosaki K, Jones MC, Stayboldt C.
Am J Med Genet. 1996;66(1):55-9.
Pulmonary hypoplasia Tetraphocomelia
Ectromelia Females Fetus Genes, Recessive Homo sapiens X Chromosome
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000202 Oral cleft Very frequent (99-80%)
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0003057 Tetraamelia Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0009103 Aplasia/Hypoplasia involving the pelvis Very frequent (99-80%)
HP:0009924 Aplasia/Hypoplasia involving the nose Very frequent (99-80%)
HP:0000003 Multicystic kidney dysplasia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000148 Vaginal atresia Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0000648 Optic atrophy Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000921 Missing ribs Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0001600 Abnormality of the larynx Frequent (79-30%)
HP:0002023 Anal atresia Frequent (79-30%)
HP:0002101 Abnormal lung lobation Frequent (79-30%)
HP:0002777 Tracheal stenosis Frequent (79-30%)
HP:0006709 Aplasia/Hypoplasia of the nipples Frequent (79-30%)
HP:0100569 Abnormally ossified vertebrae Frequent (79-30%)
HP:0100842 Septo-optic dysplasia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002089 Pulmonary hypoplasia 1
HP:0030721 Tetraphocomelia 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
RSPO2 R-spondin 2 340419
WNT3 Wnt family member 3 7473