Thomas syndrome

Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(53.3%)		 8882777
 Thomas syndrome: potter sequence with cleft lip/palate and cardiac anomalies.
Zlotogora J, Ariel I, Ornoy A, Yagel S, Eidelman AI.
Am J Med Genet. 1996;62(3):224-6.
Polydactyly Cleft lip
Adult Congenital Heart Defects Females Homo sapiens Infant, Newborn Kidney Male Palate Pregnancy Ultrasonography
2
(50.0%)		 21663390
 Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?
Ozkaya H, Akcan AB, Aydemir G, Aydnoz S, Kul M, Karademir F, Suleymanoglu S.
Ren Fail. 2011;33(6):635-8.
Toe syndactyly Frontal bossing
Congenital Heart Defects Differential Diagnosis Echocardiography Females Follow-Up Studies Homo sapiens Infant, Newborn Kidney Kidney Diseases Palate Phenotype X-Ray Computed Tomography
3
(31.0%)		 9187857
 Primary digital clubbing associated with palmoplantar keratoderma.
Barraud-Klenovsek MM, Lubbe J, Burg G.
Dermatology. 1997;194(3):302-5.
Palmoplantar keratoderma Clubbing
Adult Differential Diagnosis Females Homo sapiens Keratoderma, Palmoplantar Osteoarthropathy, Primary Hypertrophic Osteoarthropathy, Secondary Hypertrophic Syndrome
4
(4.0%)		 25789305
 May-Thurner syndrome: High output cardiac failure as a result of iatrogenic iliac fistula.
Singh S, Singh S, Jyothimallika J, Lynch TJ.
World J Clin Cases. 2015;3(3):318-21.
Deep venous thrombosis
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000003 Multicystic kidney dysplasia Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000204 Cleft upper lip Very frequent (99-80%)
HP:0001562 Oligohydramnios Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0004383 Hypoplastic left heart Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000982 Palmoplantar keratoderma 1
HP:0002625 Deep venous thrombosis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID