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 Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FBN1
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-09 21:35:58 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00229832 individual 2 - - F ? Italy - - - - - 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
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.