Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: ARCL1C
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES
URDS
urban-rifkin-davis syndrome
Number of Symptoms 36
OrphanetNr: 221145
OMIM Id: 613177
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000015) Bladder diverticulum 15 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000340) Sloping forehead 86 / 7739
5
 (HPO:0000272) Malar flattening 277 / 7739
6
 (HPO:0000343) Long philtrum 262 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000278) Retrognathia 100 / 7739
10
 (HPO:0001388) Joint laxity 117 / 7739
11
 (HPO:0001852) Sandal gap 63 / 7739
12
 (HPO:0002035) Rectal prolapse 11 / 7739
13
 (HPO:0002021) Pyloric stenosis 51 / 7739
14
 (HPO:0000023) Inguinal hernia 181 / 7739
15
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
16
 (HPO:0001537) Umbilical hernia 206 / 7739
17
 (HPO:0000973) Cutis laxa 43 / 7739
18
 (HPO:0001655) Patent foramen ovale 31 / 7739
19
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
20
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
21
 (HPO:0002780) Bronchomalacia 7 / 7739
22
 (HPO:0002779) Tracheomalacia 26 / 7739
23
 (HPO:0001601) Laryngomalacia 61 / 7739
24
 (HPO:0002097) Emphysema 40 / 7739
25
 (OMIM) Periorbital swelling 1 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Plantar crease 1 / 7739
28
 (OMIM) Intestinal dilatation, tortuosity 1 / 7739
29
 (OMIM) Postnatal growth delay 3 / 7739
30
 (MedDRA:10013554) Diverticulum 1 / 7739
31
 (MedDRA:10013530) Diverticula 1 / 7739
32
 (OMIM) Wide fontanels 1 / 7739
33
 (HPO:0011800) Midface retrusion 221 / 7739
34
 (OMIM) Low muscle tone 1 / 7739
35
 (OMIM) Wide sutures 2 / 7739
36
 (OMIM) Diaphragm hernia or eventration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked ...
Clinical Description OMIM Urban et al. (2009) described 4 unrelated patients with a syndrome that disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia ...
Molecular genetics OMIM In 4 of 6 unrelated patients with cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities, Urban et al. (2009) identified homozygous or compound heterozygous mutations in the LTBP4 gene (604710.0001-604710.0005). Four of the 5 identified mutations were ...