Rombo syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 27 |
OrphanetNr: | 3110 |
OMIM Id: |
180730
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ICD-10: |
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UMLs: |
C1867147 |
MeSH: |
C535870 |
MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Unknown [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic skin tumor
-Rare genetic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000534) | Abnormality of the eyebrow | 39 / 7739 | ||||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000492) | Abnormality of the eyelid | Frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0100837) | Atrophodermia vermiculata | Very frequent [Orphanet] | 3 / 7739 | |||
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(HPO:0000499) | Abnormality of the eyelashes | 35 / 7739 | ||||
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(HPO:0000271) | Abnormality of the face | Frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0007380) | Facial telangiectasia | 3 / 7739 | ||||
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(HPO:0002671) | Basal cell carcinoma | 18 / 7739 | ||||
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(HPO:0001063) | Acrocyanosis | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0100585) | Telangiectasia of the skin | Very frequent [Orphanet] | 66 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Occasional [Orphanet] | 216 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(OMIM) | Trichoepithelioma (brown, flat-topped papules) (rare) | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Follicular skin atrophy of cheeks | 1 / 7739 | ||||
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(OMIM) | Whitish-yellow, milia-like facial papules | 1 / 7739 | ||||
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(OMIM) | Vermiculate atrophoderma | 1 / 7739 | ||||
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(OMIM) | Cyanotic redness of lips and hands | 1 / 7739 | ||||
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(OMIM) | Absent/abnormal eyelashes and eyebrows | 1 / 7739 | ||||
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(OMIM) | Elastin loss and clumping in skin | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Michaelsson et al. (1981) designated an apparently hitherto undescribed disorder Rombo syndrome after the oldest affected family member. Skin changes began at ages 7 to 10 years. At that time a pronounced, somewhat cyanotic redness of the lips ... |