MCID: RBN010
MIFTS: 13

Robinow-Like Syndrome

Categories: Bone diseases, Fetal diseases, Reproductive diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Robinow-Like Syndrome

MalaCards integrated aliases for Robinow-Like Syndrome:

Name: Robinow-Like Syndrome 55
Saal-Greenstein Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
robinow-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA3105
ICD10 via Orphanet 33 Q87.1

Summaries for Robinow-Like Syndrome

MalaCards based summary : Robinow-Like Syndrome, is also known as saal-greenstein syndrome, and has symptoms including macrocephaly, hypertelorism and rieger anomaly.

Related Diseases for Robinow-Like Syndrome

Symptoms & Phenotypes for Robinow-Like Syndrome

Human phenotypes related to Robinow-Like Syndrome:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 obligate (100%) Obligate (100%) HP:0000256
2 hypertelorism 55 31 obligate (100%) Obligate (100%) HP:0000316
3 rieger anomaly 55 31 obligate (100%) Obligate (100%) HP:0000558
4 frontal bossing 55 31 obligate (100%) Obligate (100%) HP:0002007
5 short nose 55 31 obligate (100%) Obligate (100%) HP:0003196
6 short stature 55 31 obligate (100%) Obligate (100%) HP:0004322
7 hypoplastic female external genitalia 55 31 obligate (100%) Obligate (100%) HP:0012815
8 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
9 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280

Drugs & Therapeutics for Robinow-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Robinow-Like Syndrome

Genetic Tests for Robinow-Like Syndrome

Anatomical Context for Robinow-Like Syndrome

Publications for Robinow-Like Syndrome

Variations for Robinow-Like Syndrome

Expression for Robinow-Like Syndrome

Search GEO for disease gene expression data for Robinow-Like Syndrome.

Pathways for Robinow-Like Syndrome

GO Terms for Robinow-Like Syndrome

Sources for Robinow-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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