Autosomal recessive cutis laxa type 2B

General Information (adopted from Orphanet):

Synonyms, Signs: ARCL2B
CUTIS LAXA WITH PROGEROID FEATURES
Autosomal recessive cutis laxa type 2, progeroid type
ARCL2, progeroid type
Number of Symptoms 44
OrphanetNr: 357064
OMIM Id: 612940
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cutis laxa type 2
 -Rare abdominal surgical disease
 -Rare bone 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:0000490) Deeply set eye 131 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
4
 (HPO:0000592) Blue sclerae 85 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
8
 (HPO:0006487) Bowing of the long bones 95 / 7739
9
 (HPO:0001234) Hitchhiker thumb 5 / 7739
10
 (HPO:0005895) Radial deviation of thumb terminal phalanx 3 / 7739
11
 (HPO:0001181) Adducted thumb 31 / 7739
12
 (HPO:0001374) Congenital hip dislocation 51 / 7739
13
 (HPO:0000337) Broad forehead 116 / 7739
14
 (HPO:0002007) Frontal bossing 366 / 7739
15
 (HPO:0000239) Large fontanelles 135 / 7739
16
 (HPO:0000252) Microcephaly 832 / 7739
17
 (HPO:0011220) Prominent forehead 137 / 7739
18
 (HPO:0002650) Scoliosis 705 / 7739
19
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
20
 (HPO:0000938) Osteopenia 138 / 7739
21
 (HPO:0001382) Joint hypermobility 231 / 7739
22
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
23
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
24
 (HPO:0000272) Malar flattening 277 / 7739
25
 (HPO:0011800) Midface retrusion 221 / 7739
26
 (HPO:0000325) Triangular face 91 / 7739
27
 (HPO:0000418) Narrow nasal ridge 15 / 7739
28
 (HPO:0000411) Protruding ear 140 / 7739
29
 (HPO:0000973) Cutis laxa 43 / 7739
30
 (HPO:0001582) Redundant skin 51 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
33
 (HPO:0000238) Hydrocephalus 278 / 7739
34
 (OMIM) Aged appearance 3 / 7739
35
 (OMIM) Broad, prominent forehead 2 / 7739
36
 (OMIM) Long digits 3 / 7739
37
 (OMIM) No metabolic abnormalities 1 / 7739
38
 (OMIM) No vascular tortuosity 1 / 7739
39
 (OMIM) Poor growth, postnatal 8 / 7739
40
 (OMIM) Prominent bulbous nose 1 / 7739
41
 (OMIM) Prominent veins 3 / 7739
42
 (OMIM) Reduced skin elasticity 1 / 7739
43
 (OMIM) Sagging cheeks 2 / 7739
44
 (OMIM) Wrinkly skin 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which ...
Clinical Description OMIM Al-Gazali et al. (2001) reported 5 children from 2 consanguineous families, of Palestinian and Syrian origin, respectively, with features overlapping both geroderma osteodysplastica (GO; 231070) and wrinkly skin syndrome (WSS; 278250). All 5 children had similar dysmorphic facial ...
Molecular genetics OMIM In affected members of 2 Maritime Canadian families of French Acadian descent with ARCL2B, Guernsey et al. (2009) identified a homozygous mutation in the PYCR1 gene (179035.0001), resulting in loss of protein function.

In patients with ...