Disease #00240 (MASS (MASS syndrome (MASS)), OMIM:604308)

Official abbreviation MASS
Name MASS syndrome (MASS)
OMIM ID 604308
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FBN1
Associated tissues -
Disease features -
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Individuals

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00229832 individual 2 - - F ? Italy - - 0 - - MASS 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. FBN1 FBN1 1 1 Carmela Fusco
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