MCID: RMB001
MIFTS: 21

Rombo Syndrome

Categories: Cancer diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Rombo Syndrome

MalaCards integrated aliases for Rombo Syndrome:

Name: Rombo Syndrome 57 19 58 75 71
Vermiculate Atrophoderma, Milia, Hypotrichosis, Trichoepitheliomas, Basal Cell Carcinomas and Peripheral Vasodilation with Cyanosis 19

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 180730
MESH via Orphanet 44 C535870
ICD10 via Orphanet 32 L98.8
UMLS via Orphanet 72 C1867147
Orphanet 58 ORPHA3110
MedGen 40 C1867147
SNOMED-CT via HPO 69 1338007 254701007 275265005
UMLS 71 C1867147

Summaries for Rombo Syndrome

GARD: 19 Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.

MalaCards based summary: Rombo Syndrome, also known as vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis, is related to bazex syndrome and basal cell carcinoma 1, and has symptoms including cyanosis Affiliated tissues include skin, and related phenotypes are abnormal eyelash morphology and abnormal eyebrow morphology

Orphanet: 58 Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.

Wikipedia: 75 Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the... more...

More information from OMIM: 180730

Related Diseases for Rombo Syndrome

Diseases related to Rombo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bazex syndrome 11.1
2 basal cell carcinoma 1 11.1
3 basal cell carcinoma 10.2
4 skin atrophy 10.2
5 atrophoderma vermiculata 10.0
6 hypotrichosis 7 10.0
7 hypotrichosis 10.0

Graphical network of the top 20 diseases related to Rombo Syndrome:



Diseases related to Rombo Syndrome

Symptoms & Phenotypes for Rombo Syndrome

Human phenotypes related to Rombo Syndrome:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal eyelash morphology 30 HP:0000499
2 abnormal eyebrow morphology 30 HP:0000534
3 basal cell carcinoma 30 HP:0002671
4 facial telangiectasia 30 HP:0007380

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skin:
cyanotic redness of lips and hands
follicular skin atrophy of cheeks
whitish-yellow, milia-like facial papules
facial telangiectatic vessels
vermiculate atrophoderma

Oncology:
basal cell carcinomas
trichoepitheliomas

Lab:
elastin loss and clumping in skin

Hair:
absent/abnormal eyelashes and eyebrows

Misc:
skin change onset at ages 7 to 10 years

Clinical features from OMIM®:

180730 (Updated 24-Oct-2022)

UMLS symptoms related to Rombo Syndrome:


cyanosis

Drugs & Therapeutics for Rombo Syndrome

Search Clinical Trials, NIH Clinical Center for Rombo Syndrome

Genetic Tests for Rombo Syndrome

Anatomical Context for Rombo Syndrome

Organs/tissues related to Rombo Syndrome:

MalaCards : Skin

Publications for Rombo Syndrome

Articles related to Rombo Syndrome:

# Title Authors PMID Year
1
A case of Rombo syndrome. 62 57
11422044 2001
2
The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. 62 57
6177160 1981
3
Advanced basal cell carcinoma: What dermatologists need to know about diagnosis. 62
35577405 2022
4
Skin Cancer Associated Genodermatoses: A Literature Review. 62
30653245 2019
5
Hereditary tumour syndromes featuring basal cell carcinomas. 62
21428980 2011
6
Sweat duct proliferation associated with aggregates of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma. Report of two cases. 62
20175822 2010
7
Familial syndromes with skin tumor markers. 62
7944188 1994
8
Rombo syndrome: a second case report and review. 62
8496444 1993

Variations for Rombo Syndrome

Expression for Rombo Syndrome

Search GEO for disease gene expression data for Rombo Syndrome.

Pathways for Rombo Syndrome

GO Terms for Rombo Syndrome

Sources for Rombo Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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