Cutis laxa-Marfanoid syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CUTIS LAXA-MARFANOID SYNDROME
Number of Symptoms 19
OrphanetNr: 171719
OMIM Id: 614100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Malformation syndrome with connective tissue involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
2
(HPO:0001166) Arachnodactyly 62 / 7739
3
(HPO:0002827) Hip dislocation 94 / 7739
4
(HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
5
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
6
(HPO:0000775) Abnormality of the diaphragm Very frequent [Orphanet] 62 / 7739
7
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
8
(HPO:0001519) Disproportionate tall stature Frequent [Orphanet] 39 / 7739
9
(HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
10
(HPO:0000973) Cutis laxa 43 / 7739
11
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
12
(HPO:0001654) Abnormality of the heart valves Frequent [Orphanet] 49 / 7739
13
(HPO:0002097) Emphysema Very frequent [Orphanet] 40 / 7739
14
(HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
15
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
16
(HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Deficiency of laminin in basement membranes 1 / 7739
19
(OMIM) Mild elbow, hip, and knee contractures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bonneau et al. (1991) described an infant with cutis laxa, emphysema, striking cardiac abnormalities, and a diaphragmatic hernia, leading to death at the age of 22 weeks. The infant had mild contractures at the elbows, hips, and knees, ...