FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Catel Manzke syndrome ID (Ontology) DOID:0081122 (Human Disease)
Definition A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
Also Known As "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" ; "Micrognathia digital syndrome"
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  connective tissue disease
   |__bone disease
       |__Catel Manzke syndrome
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Synonyms
  • "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT
    "Micrognathia digital syndrome" EXACT
Secondary IDs
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GARD:28
MESH:C535347
MIM:616145
ORDO:1388