Phenotype #0000288511

Individual ID 00395311
Associated disease FOP
Phenotype details see paper; ..., 26y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); distal femoral osteochondroma; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); normal right great toe, minor changes in 1st left metatarsal; intra-articular synovial osteochondromatosis of hips, DJD hips; anatomic abnormalities of cerebellum;
Diagnosis/Initial fibrodysplasia ossificans progressiva variant
Inheritance Unknown
Diagnosis/Definite FOP
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-12-05 10:19:51 +01:00 (CET)
Date last edited N/A

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