MCID: RBN010
MIFTS: 15

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 59
Saal-Greenstein Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
robinow-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 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. Affiliated tissues include eye, and related phenotypes are macrocephaly and hypertelorism

Wikipedia : 76 Saal Greenstein syndrome is a very rare autosomal recessive genetic disorder characterized by stunted... more...

Related Diseases for Robinow-Like Syndrome

Symptoms & Phenotypes for Robinow-Like Syndrome

Human phenotypes related to Robinow-Like Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 obligate (100%) Obligate (100%) HP:0000256
2 hypertelorism 59 32 obligate (100%) Obligate (100%) HP:0000316
3 rieger anomaly 59 32 obligate (100%) Obligate (100%) HP:0000558
4 frontal bossing 59 32 obligate (100%) Obligate (100%) HP:0002007
5 short nose 59 32 obligate (100%) Obligate (100%) HP:0003196
6 short stature 59 32 obligate (100%) Obligate (100%) HP:0004322
7 hypoplastic female external genitalia 59 32 obligate (100%) Obligate (100%) HP:0012815
8 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
9 depressed nasal bridge 59 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

MalaCards organs/tissues related to Robinow-Like Syndrome:

41
Eye

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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