Clinical Guidance
EFEMP2-related cutis laxa (autosomal recessive cutis laxa type 1B, ARCL1B) is a highly variable disorder ranging from perinatal lethality caused by cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems . The most common shared features besides cutis laxa include arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. To date, 49 individuals have been identified with a pathogenic variant in EFEMP2 [, , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. EFEMP2-Related Cutis Laxa: Frequency of Select Features
Feature | % of Persons w/Feature1 | Comment |
|---|
Arterial/aortic aneurysms | 90% | Most typically occurring in ascending aorta aortic arch |
Arterial tortuosity | 90% | — |
Arterial stenosis | 25%-90% | Typically occurs in aortic isthmus |
Early mortality | 25%-90% | — |
Emphysema | 25% | — |
Diaphragmatic abnormalities | 25%-90% | Diaphragmatic herniation, rupture |
Cutis laxa | 25%-90% | — |
Thin translucent skin | 25% | — |
Velvety skin | 25% | — |
Hernia | 25%-90% | Inguinal, umbilical hernia |
Micro-/retrognathia | 25%-90% | — |
Long philtrum | 25%-90% | — |
Widely spaced eyes | 25%-90% | — |
Keratoglobus | 25% | — |
High palate | 25%-90% | — |
Dysplastic ears | 25% | — |
Joint laxity or contractures | 25%-90% | — |
Hypotonia | 25%-90% | — |
Arachnodactyly | 25%-90% | — |
Pectus deformity | 25% | Pectus excavatum or carinatum |
Bone fragility | 25% | Bone fractures, rib/long bone defects, bone mineral density 1. Cardiovascular. The most typical cardiovascular findings are marked aortic dilatation, aortic and arterial tortuosity, isthmic aortic narrowing, and dilatation/stenosis of the pulmonary arteries. |
Source: GeneReviews — "EFEMP2-Related Cutis Laxa"
