ADCL | ARCL type Ia | ARCL type 1c | ARCL type 1b | |
---|---|---|---|---|
(ELN) | (FBLN5) | (LTBP4) | (FBLN4) | |
Dysmorphism | Long philtrum, beaked nose | Long philtrum, large ears, beaked nose | Long philtrum, large ears, beaked nose, sparse hair on temporal sides | |
Skin | Loose redundant skin folds | Loose redundant skin folds | Loose redundant skin folds | Hyperextensible skin |
Coarse face | Skin redundancy | |||
Cardiovascular | ARD, valvular anomalies | SVAS, PPAS | PPAS, CPAS | ARD, multiple arterial aneurysms |
Emphysema | + | +++ | +++ | +/- |
Genitourinary diverticula | + | +++ | ++ | ? |
Gastro-intestinal diverticula/tortuosity | - | + | +++ | ? |
Inheritance | AD | AR | AR | AR |