Details of Disease

General Information of Disease (ID: DISF96QX)

• Disease Name: Congenital radioulnar synostosis
• Synonyms: radio-ulnar synostosis type 1; proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius; radial-ulnar synostosis; radio-ulnar synostosis; radioulnar fusion; radioulnar synostosis (disease); radioulnar synostosis
• Definition: Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
• Disease Hierarchy:
  DISXGMZW: Synostosis
  DISF96QX: Congenital radioulnar synostosis
• Disease Identifiers:
  MONDO ID: MONDO_0017985
  MESH ID: C562408
  UMLS CUI: C0158761
  MedGen ID: 57861
  HPO ID: HP:0002974
  Orphanet ID: 3269
  SNOMED CT ID: 33313004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZMAT2	OTMJNFAY	Limited	Autosomal dominant	[1]
TBX22	OTT1RM26	Limited	Biomarker	[5]
SMAD6	OTUZZWUD	Supportive	Unknown	[2]
EFTUD2	OT3X7QG2	Strong	Biomarker	[6]
MECOM	OTP983W8	Strong	Genetic Variation	[7]
SALL4	OTC08PR5	Strong	Genetic Variation	[8]
FMN1	OT9CID5R	Definitive	Genetic Variation	[9]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMAD6	TTON5JB	Supportive	Unknown	[2]
SMAD6	TTON5JB	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Strong	Biomarker	[4]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. Genet Med. 2019 Nov;21(11):2577-2585. doi: 10.1038/s41436-019-0552-8. Epub 2019 May 29.
• [3] Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.Genet Med. 2019 Oct;21(10):2409. doi: 10.1038/s41436-019-0578-y.
• [4] Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.Orphanet J Rare Dis. 2017 Sep 7;12(1):153. doi: 10.1186/s13023-017-0704-3.
• [5] X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.
• [6] Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.Cleft Palate Craniofac J. 2015 Mar;52(2):237-9. doi: 10.1597/13-221. Epub 2014 May 7.
• [7] MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.Blood Adv. 2018 Mar 27;2(6):586-596. doi: 10.1182/bloodadvances.2018016501.
• [8] An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.Am J Med Genet A. 2015 Jul;167(7):1644-9. doi: 10.1002/ajmg.a.37066. Epub 2015 Mar 30.
• [9] Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.J Med Genet. 2010 Aug;47(8):569-74. doi: 10.1136/jmg.2009.073833. Epub 2010 Jul 7.