Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Jagell-Holmgren-Hofer syndrome |
| Number of Symptoms | 16 |
| OrphanetNr: | 2269 |
| OMIM Id: |
242510
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| MeSH: |
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| MedDRA: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal ichthyosis syndrome with prominent neurologics signs
-Rare genetic disease -Rare skin disease Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000492) | Abnormality of the eyelid | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0012472) | Eclabion | 7 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000656) | Ectropion | 25 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In an inbred North-Swedish family, Jagell et al. (1987) found an ichthyosis-mental retardation syndrome apparently distinct from the Sjogren-Larsson syndrome (SLS; 270200), which is unusually frequent in the same area. The disorder differed from SLS by the presence ... |