Phenotype #0000288527

Individual ID	00395327
Associated disease	FOP
Phenotype details	see paper; ..., normal birth, 10y-difficulty moving shoulder due to contractures both shoulder joints; joint contractures progressed slowly in extremities; 36y-unable to walk; 55y-bedridden, rigid spine, baldness, sensory hearing-loss, abnormal ossification, no respiratory failure; severe hypodactyly, short thumbs both hands, severe defect both great toes; no neurological anomalies, joint contractures, abnormal ossification; X-ray/3D-tomography extensive heterotopic bone formation, rigid spine, very short first metacarpal bones, toe malformations, defect of ossa digitorum both great toes
Diagnosis/Initial	fibrodysplasia ossificans progressiva
Inheritance	Isolated (sporadic)
Diagnosis/Definite	FOP
Age/Examination	62y (62 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-05 10:29:55 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD