MCID: RBN010
MIFTS: 13

Robinow-Like Syndrome

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

Aliases & Classifications for Robinow-Like Syndrome

MalaCards integrated aliases for Robinow-Like Syndrome:

Name: Robinow-Like Syndrome 56
Saal-Greenstein Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
robinow-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA3105
ICD10 via Orphanet 34 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:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 obligate (100%) Obligate (100%) HP:0000256
2 hypertelorism 56 32 obligate (100%) Obligate (100%) HP:0000316
3 rieger anomaly 56 32 obligate (100%) Obligate (100%) HP:0000558
4 frontal bossing 56 32 obligate (100%) Obligate (100%) HP:0002007
5 short nose 56 32 obligate (100%) Obligate (100%) HP:0003196
6 short stature 56 32 obligate (100%) Obligate (100%) HP:0004322
7 hypoplastic female external genitalia 56 32 obligate (100%) Obligate (100%) HP:0012815
8 hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0000238
9 depressed nasal bridge 56 32 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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