MCID: RSS006
MIFTS: 13

Rosselli-Gulienetti Syndrome

Aliases & Classifications for Rosselli-Gulienetti Syndrome

MalaCards integrated aliases for Rosselli-Gulienetti Syndrome:

Name: Rosselli-Gulienetti Syndrome 56 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to margarita island type of ectodermal dysplasia


HPO:

31
rosselli-gulienetti syndrome:
Inheritance autosomal recessive inheritance


Summaries for Rosselli-Gulienetti Syndrome

MalaCards based summary : Rosselli-Gulienetti Syndrome is related to obsolete: rosselli-gulienetti syndrome. Related phenotypes are global developmental delay and cleft palate

Wikipedia : 74 Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome and Bowen-Armstrong syndrome, is a... more...

More information from OMIM: 225000

Related Diseases for Rosselli-Gulienetti Syndrome

Diseases related to Rosselli-Gulienetti Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: rosselli-gulienetti syndrome 12.6

Symptoms & Phenotypes for Rosselli-Gulienetti Syndrome

Human phenotypes related to Rosselli-Gulienetti Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 cleft palate 31 HP:0000175
3 microdontia 31 HP:0000691
4 hypohidrosis 31 HP:0000966
5 cleft upper lip 31 HP:0000204
6 hypodontia 31 HP:0000668
7 abnormality of the philtrum 31 HP:0000288
8 nail dysplasia 31 HP:0002164
9 cutaneous finger syndactyly 31 HP:0010554
10 sparse eyelashes 31 HP:0000653
11 abnormality of the ear 31 HP:0000598
12 palmoplantar hyperkeratosis 31 HP:0000972
13 psychomotor retardation 31 HP:0025356
14 anodontia 31 HP:0000674
15 cutaneous syndactyly of toes 31 HP:0010621
16 anteverted ears 31 HP:0040080
17 sparse and thin eyebrow 31 HP:0000535
18 progressive hypotrichosis 31 HP:0002296

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
hypohidrosis may be present

Skeletal Hands:
syndactyly, cutaneous

Head And Neck Nose:
abnormal philtrum

Neurologic Central Nervous System:
psychomotor retardation, variable

Head And Neck Teeth:
microdontia
hypodontia
anodontia

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
hypotrichosis, progressive
sparse, abnormal hair

Head And Neck Ears:
anteverted ears

Skeletal Feet:
syndactyly, cutaneous

Skin Nails Hair Nails:
onychodysplasia may be present

Clinical features from OMIM:

225000

Drugs & Therapeutics for Rosselli-Gulienetti Syndrome

Search Clinical Trials , NIH Clinical Center for Rosselli-Gulienetti Syndrome

Genetic Tests for Rosselli-Gulienetti Syndrome

Anatomical Context for Rosselli-Gulienetti Syndrome

Publications for Rosselli-Gulienetti Syndrome

Articles related to Rosselli-Gulienetti Syndrome:

# Title Authors PMID Year
1
Syndactyly, ectodermal dysplasia, and cleft lip/palate. 56
7891379 1994
2
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. 56
174848 1976
3
Ectodermal dysplasia. 56
14494246 1961

Variations for Rosselli-Gulienetti Syndrome

Expression for Rosselli-Gulienetti Syndrome

Search GEO for disease gene expression data for Rosselli-Gulienetti Syndrome.

Pathways for Rosselli-Gulienetti Syndrome

GO Terms for Rosselli-Gulienetti Syndrome

Sources for Rosselli-Gulienetti Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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