Phenotypes for disease #00240 (MASS (MASS syndrome (MASS)), OMIM:604308)

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000173007 Chronic back pain, diffuse spondylosis and marked dural ectasias of the lumbar spine. Moderately severe scoliosis since her teens, severe myopia (-6 diopters on the right and -8 dipters on the left) and chronic fatigue. Physical examination showed height 181 cm, weight 80 cm, arm span 188 cm, arm span/height ratio 1.038 (normal), bilaterally positive wrist and thumb signs, hypermobility of fingers but Beighton score 0/9, elbow limitation on both sides, enophthalmos, downslanting palpebral fissures, retrognathia, high-arched palate, striae distensae of the shoulders. Presence of 10 points of systemic features and an aortic root diameter < 2 SD. MASS MASS Unknown - - - - - Carmela Fusco 00229832
Legend   How to query