Phenotype #0000173006

Individual ID	00229824
Associated disease	MFS
Phenotype details	Dilatation of the aortic root and ascending aorta, minimal insufficiency of the aortic valve, prolapse of the anterior mitral leaflet, mild insufficiency of the tricuspid valve, progressive scoliosis, spontaneous pneumothorax, mild myopia (-2 diopters on the right and -1.5 diopters on the left), bilateral positive wrist sign, bilateral negative thumb sign, apparent enophthalmos, downslanting palpebral fissures, malar hypoplasia, high-arched palate, severe scoliosis, pectus carinatum, bilateral valgus deformity of the elbow, bilateral metatarsus varus, some mildly atrophic post-surgical scars of the thorax, and striae rubrae of the back.
Diagnosis/Initial	Marfan syndrome (MFS; OMIM 154700)
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Marfan syndrome (MFS; OMIM 154700)
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	p.(?)
Owner name	Carmela Fusco
Database submission license	No license selected
Created by	Carmela Fusco
Date created	2019-04-11 11:17:29 +02:00 (CEST)
Date last edited	2019-04-12 09:10:53 +02:00 (CEST)