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Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome(CTRUS)

MedGen UID:
340183
•Concept ID:
C1854273
•
Disease or Syndrome
Synonym: Radioulnar synostosis with amegakaryocytic thrombocytopenia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011555
OMIM®: 605432
OMIM® Phenotypic series: PS605432
Orphanet: ORPHA71289

Definition

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRadio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Follow this link to review classifications for Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in Orphanet.

Recent clinical studies

Etiology

Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome.
Irie M, Niihori T, Nakano T, Suzuki T, Katayama S, Moriya K, Niizuma H, Suzuki N, Saito-Nanjo Y, Onuma M, Rikiishi T, Sato A, Hangai M, Hiwatari M, Ikeda J, Tanoshima R, Shiba N, Yuza Y, Yamamoto N, Hashii Y, Kato M, Takita J, Maeda M, Aoki Y, Imaizumi M, Sasahara Y
Int J Hematol 2023 Apr;117(4):598-606. Epub 2022 Dec 14 doi: 10.1007/s12185-022-03505-7. PMID: 36515795Free PMC Article

Diagnosis

Congenital amegakaryocytic thrombocytopenia - Not a single disease.
Germeshausen M, Ballmaier M
Best Pract Res Clin Haematol 2021 Jun;34(2):101286. Epub 2021 Jul 14 doi: 10.1016/j.beha.2021.101286. PMID: 34404532
A neonate with severe thrombocytopenia and radio-ulnar synostosis.
Sola MC, Slayton WB, Rimsza LM, Perez JA, Fuchs D, Calhoun DA, Christensen RD
J Perinatol 2004 Aug;24(8):528-30. doi: 10.1038/sj.jp.7211134. PMID: 15282617
Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.
Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC
Br J Haematol 2001 Jun;113(4):866-70. doi: 10.1046/j.1365-2141.2001.02834.x. PMID: 11442476

Therapy

Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome.
Irie M, Niihori T, Nakano T, Suzuki T, Katayama S, Moriya K, Niizuma H, Suzuki N, Saito-Nanjo Y, Onuma M, Rikiishi T, Sato A, Hangai M, Hiwatari M, Ikeda J, Tanoshima R, Shiba N, Yuza Y, Yamamoto N, Hashii Y, Kato M, Takita J, Maeda M, Aoki Y, Imaizumi M, Sasahara Y
Int J Hematol 2023 Apr;117(4):598-606. Epub 2022 Dec 14 doi: 10.1007/s12185-022-03505-7. PMID: 36515795Free PMC Article
Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.
Castillo-Caro P, Dhanraj S, Haut P, Robertson K, Dror Y, Sharathkumar AA
J Pediatr Hematol Oncol 2010 Aug;32(6):479-85. doi: 10.1097/MPH.0b013e3181e5129d. PMID: 20562651

Prognosis

A neonate with severe thrombocytopenia and radio-ulnar synostosis.
Sola MC, Slayton WB, Rimsza LM, Perez JA, Fuchs D, Calhoun DA, Christensen RD
J Perinatol 2004 Aug;24(8):528-30. doi: 10.1038/sj.jp.7211134. PMID: 15282617

Clinical prediction guides

Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome.
Irie M, Niihori T, Nakano T, Suzuki T, Katayama S, Moriya K, Niizuma H, Suzuki N, Saito-Nanjo Y, Onuma M, Rikiishi T, Sato A, Hangai M, Hiwatari M, Ikeda J, Tanoshima R, Shiba N, Yuza Y, Yamamoto N, Hashii Y, Kato M, Takita J, Maeda M, Aoki Y, Imaizumi M, Sasahara Y
Int J Hematol 2023 Apr;117(4):598-606. Epub 2022 Dec 14 doi: 10.1007/s12185-022-03505-7. PMID: 36515795Free PMC Article
A neonate with severe thrombocytopenia and radio-ulnar synostosis.
Sola MC, Slayton WB, Rimsza LM, Perez JA, Fuchs D, Calhoun DA, Christensen RD
J Perinatol 2004 Aug;24(8):528-30. doi: 10.1038/sj.jp.7211134. PMID: 15282617

Supplemental Content

Table of contents

    Clinical resources

    Reviews

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    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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