FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ID (Ontology) DOID:0081072 (Human Disease)
Definition A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills.
Also Known As "Cerebro-facio-thoracic dysplasia" ; "Cerebrofaciothoracic dysplasia" ; "Pascual-Castroviejo syndrome" (for all, see Synonyms field below)
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  disease
   |__syndrome
       |__craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome  2 rec.
           |__craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 1 rec.
           |__craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 1 rec.
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Synonyms
  • "Cerebro-facio-thoracic dysplasia" EXACT
    "Cerebrofaciothoracic dysplasia" EXACT
    "Pascual-Castroviejo syndrome" EXACT
    "TMCO1 defect syndrome" EXACT
Secondary IDs
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GARD:1210
MIM:PS213980
ORDO:1394