Parana hard-skin syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Hard-skin syndrome, Parana type
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Number of Symptoms
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22
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OrphanetNr:
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2812
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OMIM Id:
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260530
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Unclassified genetic skin disease
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0000311)
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Round face |
Occasional [Orphanet]
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104 / 7739
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2
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(HPO:0004404)
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Abnormality of the nipple |
Occasional [Orphanet]
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54 / 7739
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3
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(HPO:0006596)
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Restricted chest movement |
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2 / 7739
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4
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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5
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(HPO:0001182)
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Tapered finger |
Frequent [Orphanet]
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93 / 7739
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6
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(HPO:0000768)
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Pectus carinatum |
Occasional [Orphanet]
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136 / 7739
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7
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(HPO:0001438)
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Abnormality of the abdomen |
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28 / 7739
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8
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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492 / 7739
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9
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(HPO:0004322)
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Short stature |
Occasional [Orphanet]
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1232 / 7739
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10
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(HPO:0008850)
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Severe postnatal growth retardation |
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16 / 7739
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11
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(HPO:0000962)
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Hyperkeratosis |
Occasional [Orphanet]
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216 / 7739
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12
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(HPO:0001072)
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Thickened skin |
Very frequent [Orphanet]
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87 / 7739
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13
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(HPO:0011362)
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Abnormal hair quantity |
Occasional [Orphanet]
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92 / 7739
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14
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(HPO:0000951)
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Abnormality of the skin |
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147 / 7739
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15
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(HPO:0000953)
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Hyperpigmentation of the skin |
Very frequent [Orphanet]
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75 / 7739
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16
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(HPO:0002093)
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Respiratory insufficiency |
Frequent [Orphanet]
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410 / 7739
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17
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(OMIM)
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Total skin thickening |
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1 / 7739
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18
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(OMIM)
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Restricted abdominal movement |
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1 / 7739
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19
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(OMIM)
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Growth retardation, severe (if untreated) |
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5 / 7739
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20
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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21
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(HPO:0001522)
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Death in infancy |
Frequent [Orphanet]
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275 / 7739
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22
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(OMIM)
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Freezing of all joints |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |