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Thomas syndrome

MedGen UID:
419362
•Concept ID:
C2931225
•
Disease or Syndrome
Synonyms: Potter sequence cleft lip and palate cardiopathy syndrome; Potter sequence-cleft lip/palate-cardiopathy syndrome
SNOMED CT: Potter sequence cleft lip and palate cardiopathy syndrome (716740009); Thomas syndrome (716740009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018043
Orphanet: ORPHA3316

Definition

Thomas syndrome has characteristics of renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThomas syndrome
Follow this link to review classifications for Thomas syndrome in Orphanet.

Recent clinical studies

Etiology

Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?
Ozkaya H, Akcan AB, Aydemir G, Aydınöz S, Kul M, Karademir F, Süleymanoğlu S
Ren Fail 2011;33(6):635-8. doi: 10.3109/0886022X.2011.585414. PMID: 21663390

Diagnosis

Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?
Ozkaya H, Akcan AB, Aydemir G, Aydınöz S, Kul M, Karademir F, Süleymanoğlu S
Ren Fail 2011;33(6):635-8. doi: 10.3109/0886022X.2011.585414. PMID: 21663390
Primary digital clubbing associated with palmoplantar keratoderma.
Barraud-Klenovsek MM, Lübbe J, Burg G
Dermatology 1997;194(3):302-5. doi: 10.1159/000246137. PMID: 9187857

Prognosis

Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.
Lhuaire M, Jestin A, Boulagnon C, Loock M, Doco-Fenzy M, Gaillard D, Diebold MD, Avisse C, Labrousse M
Birth Defects Res A Clin Mol Teratol 2013 Mar;97(3):123-32. doi: 10.1002/bdra.23125. PMID: 23526679
Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?
Ozkaya H, Akcan AB, Aydemir G, Aydınöz S, Kul M, Karademir F, Süleymanoğlu S
Ren Fail 2011;33(6):635-8. doi: 10.3109/0886022X.2011.585414. PMID: 21663390

Clinical prediction guides

Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.
Lhuaire M, Jestin A, Boulagnon C, Loock M, Doco-Fenzy M, Gaillard D, Diebold MD, Avisse C, Labrousse M
Birth Defects Res A Clin Mol Teratol 2013 Mar;97(3):123-32. doi: 10.1002/bdra.23125. PMID: 23526679

Supplemental Content

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