Rombo syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr: 3110
OMIM Id: 180730
ICD-10:
UMLs: C1867147
MeSH: C535870
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
2
(HPO:0000534) Abnormality of the eyebrow 39 / 7739
3
(HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
4
(HPO:0000492) Abnormality of the eyelid Frequent [Orphanet] 41 / 7739
5
(HPO:0100837) Atrophodermia vermiculata Very frequent [Orphanet] 3 / 7739
6
(HPO:0000499) Abnormality of the eyelashes 35 / 7739
7
(HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
8
(HPO:0100559) Lower limb asymmetry Occasional [Orphanet] 30 / 7739
9
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
10
(HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
11
(HPO:0007380) Facial telangiectasia 3 / 7739
12
(HPO:0002671) Basal cell carcinoma 18 / 7739
13
(HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
14
(HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
15
(HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
16
(HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
17
(HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
18
(HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
19
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
20
(OMIM) Trichoepithelioma (brown, flat-topped papules) (rare) 2 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(OMIM) Follicular skin atrophy of cheeks 1 / 7739
23
(OMIM) Whitish-yellow, milia-like facial papules 1 / 7739
24
(OMIM) Vermiculate atrophoderma 1 / 7739
25
(OMIM) Cyanotic redness of lips and hands 1 / 7739
26
(OMIM) Absent/abnormal eyelashes and eyebrows 1 / 7739
27
(OMIM) Elastin loss and clumping in skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...