Phenotype #0000227647

Individual ID	00300340
Associated disease	OI
Phenotype details	1d-contractures elbows, hips, knee and ankle joints; no clubfeet, feet in varus; no fractures at birth, 3y-multiple healed and non-healed fractures in arms, legs and vertebrae, >3y-multiple fracture; bowed long bones; Wormian bones; osteoporosis, no osteopenia; normal sclera, nornal teeth; severe kypho-scoliosis, pectus caritum; no dysmorphology; 18y-length 129cm (-5.1), weight 26kg, OFC 54.5cm; motor development can bottom shuffle; non-developed left patella, BiPAP during night time since 12y, severe protrusio acetabuli, continuous pain
Diagnosis/Initial	Bruck syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BRKS2
Age/Examination	18y (18 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-01 12:31:01 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD