Details of Disease

General Information of Disease (ID: DISY1VBO)

• Disease Name: Catel-Manzke syndrome
• Synonyms: Pierre Robin syndrome with hyperphalangy and clinodactyly; CATMANS; index finger anomaly with Pierre Robin syndrome; Palatodigital syndrome Catel-Manzke type; Catel Manzke syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Catel Manzke Syndrome; hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; micrognathia digital syndrome; index finger anomaly-Pierre Robin syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome; Palatodigital syndrome, Catel-Manzke type
• Definition: Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
• Disease Hierarchy:
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS5Z8U6: Skeletal dysplasia
  DISY1VBO: Catel-Manzke syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014507
  MESH ID: C535347
  UMLS CUI: C1844887
  OMIM ID: 616145
  MedGen ID: 375536
  Orphanet ID: 1388
  SNOMED CT ID: 722383001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CANT1	OT1TPWQR	Strong	Genetic Variation	[1]
TGDS	OTEOFLOS	Definitive	Autosomal recessive	[2]

References

• [1] IMPAD1 mutations in two Catel-Manzke like patients.Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6.
• [2] Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004.