FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kenny-Caffey syndrome ID (Ontology) DOID:0080724 (Human Disease)
Definition A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.
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bone development disease
 |__osteochondrodysplasia__
cartilage disease          |
 |__osteochondrodysplasia__|
disease                    |
 |__syndrome_______________|
                           Kenny-Caffey syndrome  1 rec.
                            |__Kenny-Caffey syndrome type 1 1 rec.
                            |__Kenny-Caffey syndrome type 2
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osteochondrodysplasia
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MIM:PS127000
ORDO:2333