Autosomal recessive cutis laxa type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ARCL2 Cutis laxa with joint laxity and developmental delay |
| Number of Symptoms | 29 |
| OrphanetNr: | 90350 |
| OMIM Id: |
219200
278250 612940 |
| ICD-10: |
Q82.8 |
| UMLs: |
C0432337 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
254223007 |
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: |
Congenital entropion
-Rare eye disease -Rare genetic disease Cutis laxa -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease -Rare surgical thoracic disease Disorder of proline metabolism -Rare genetic disease Primary bone dysplasia with decreased bone density -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0000268) | Dolichocephaly | Occasional [Orphanet] | 144 / 7739 | |||
|
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(HPO:0000343) | Long philtrum | Occasional [Orphanet] | 262 / 7739 | |||
|
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
|
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
|
|
(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
|
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
|
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
|
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
|
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(HPO:0000492) | Abnormality of the eyelid | Frequent [Orphanet] | 41 / 7739 | |||
|
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(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
|
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
|
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
|
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 | |||
|
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(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
|
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
|
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(HPO:0001385) | Hip dysplasia | Frequent [Orphanet] | 242 / 7739 | |||
|
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
|
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(HPO:0001537) | Umbilical hernia | Frequent [Orphanet] | 206 / 7739 | |||
|
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001582) | Redundant skin | Very frequent [Orphanet] | 51 / 7739 | |||
|
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(HPO:0001626) | Abnormality of the cardiovascular system | Occasional [Orphanet] | 73 / 7739 | |||
|
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(HPO:0002097) | Emphysema | Occasional [Orphanet] | 40 / 7739 | |||
|
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
|
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(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 7739 | |||
|
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
|
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|