| OCCIPITAL HORN SYNDROME | |
| EHLERS DANLOS SYNDROME TYPE IX; CUTIS LAXA, X-LINKED; | |
|
304150
OMIM = Online Mendelian Inheritance of Men | |
|
198 | |
| Copper-transporting ATPase 1 | |
| 3.6.3.4 | |
| rare X-linked | |
| Laboratory findings | Ceruloplasmin normal/dec (serum) Copper normal/dec (serum) crosslinks () Deoxypyrodinoline dec (urine) Lysyl oxidase dec (fibroblasts) Pyridinoline dec (urine) |
| Symptoms | arachnodyctyly behavior, abnormal or bizarre, confusion bladder divertikulae cutis laxa decreased muscle volume, atrophy or hypoplasia diarrhea hair, abnormal (thin, brittle, fine) hernia hydronephrosis hypotension infections (urinary tract) joint hypermobilty, dislocations, laxity limb abnormalities, limb deformities mental retardation onset, infancy onset, neonatal skin defects skin, abnormal X-ray, abnormalities |