BRSS
MCID: SCH055
MIFTS: 24

Schilbach-Rott Syndrome (BRSS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Schilbach-Rott Syndrome

MalaCards integrated aliases for Schilbach-Rott Syndrome:

Name: Schilbach-Rott Syndrome 56 52 58 29 71
Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 56 52
Blepharofacioskeletal Syndrome 56 52
Brss 56 58
Hypotelorism-Cleft Palate-Hypospadias Syndrome 58
Cleft Palate, Hypotelorism, and Hypospadias 56
Hypotelorism Cleft Palate Hypospadias 52
Blepharofacioskeletal Syndrome; Brss 56
Brooke-Spiegler Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
schilbach-rott syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

31
schilbach-rott syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 164220
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1834038
Orphanet 58 ORPHA2353
MedGen 41 C1834038
UMLS 71 C1834038 C1857941

Summaries for Schilbach-Rott Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2353 Definition Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate , and the frequent occurrence of hypospadias in males. Epidemiology SRS has been described in 18 individuals to date. Its prevalence is unknown. Clinical description Features of SRS include a typical facial gestalt characterized by hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males with SRS. Etiology Etiology is unknown. Genetic counseling Transmission is autosomal dominant with variable expressivity . Visit the Orphanet disease page for more resources.

MalaCards based summary : Schilbach-Rott Syndrome, also known as ocular hypotelorism, submucosal cleft palate, and hypospadias, is related to brooke-spiegler syndrome and cylindromatosis, familial. An important gene associated with Schilbach-Rott Syndrome is PTCH1 (Patched 1). Related phenotypes are short stature and intellectual disability, mild

OMIM : 56 Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009). (164220)

Related Diseases for Schilbach-Rott Syndrome

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

(showing 12, show less)
# Related Disease Score Top Affiliating Genes
1 brooke-spiegler syndrome 11.6
2 cylindromatosis, familial 11.2
3 cowden syndrome 1 11.2
4 trichoepithelioma, multiple familial, 1 11.2
5 cleft palate, isolated 10.8
6 hypospadias 10.7
7 holoprosencephaly 10.7
8 microcephaly 10.5
9 learning disability 10.5
10 chromosome 2q35 duplication syndrome 10.4
11 blepharophimosis 10.4
12 submucosal cleft palate 10.4

Graphical network of the top 20 diseases related to Schilbach-Rott Syndrome:



Diseases related to Schilbach-Rott Syndrome

Symptoms & Phenotypes for Schilbach-Rott Syndrome

Human phenotypes related to Schilbach-Rott Syndrome:

31 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 intellectual disability, mild 31 occasional (7.5%) HP:0001256
3 microtia 31 HP:0008551
4 microcephaly 31 HP:0000252
5 narrow mouth 31 HP:0000160
6 attention deficit hyperactivity disorder 31 HP:0007018
7 micrognathia 31 HP:0000347
8 epicanthus 31 HP:0000286
9 upslanted palpebral fissure 31 HP:0000582
10 hypospadias 31 HP:0000047
11 blepharophimosis 31 HP:0000581
12 hypotelorism 31 HP:0000601
13 long nose 31 HP:0003189
14 bifid uvula 31 HP:0000193
15 submucous cleft hard palate 31 HP:0000176
16 posteriorly rotated ears 31 HP:0000358
17 prominent nose 31 HP:0000448
18 clinodactyly 31 HP:0030084
19 3-4 finger cutaneous syndactyly 31 HP:0011939
20 2-3 toe cutaneous syndactyly 31 HP:0005709

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly
small head circumference

Head And Neck Face:
micrognathia
asymmetric face

Head And Neck Eyes:
blepharophimosis
hypotelorism
epicanthal folds
upslanting palpebral fissures

Head And Neck Ears:
posteriorly rotated ears
hypoplastic ears

Neurologic Central Nervous System:
mental retardation, mild (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder

Head And Neck Mouth:
cleft palate
bifid uvula
small mouth

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Nose:
long nose
prominent nose

Skeletal Hands:
clinodactyly
syndactyly

Growth Height:
short stature (in some patients)

Clinical features from OMIM:

164220

Drugs & Therapeutics for Schilbach-Rott Syndrome

Search Clinical Trials , NIH Clinical Center for Schilbach-Rott Syndrome

Genetic Tests for Schilbach-Rott Syndrome

Genetic tests related to Schilbach-Rott Syndrome:

# Genetic test Affiliating Genes
1 Schilbach-Rott Syndrome 29

Anatomical Context for Schilbach-Rott Syndrome

Publications for Schilbach-Rott Syndrome

Articles related to Schilbach-Rott Syndrome:

(showing 6, show less)
# Title Authors PMID Year
1
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. 61 56
19921646 2009
2
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. 56 61
18627062 2008
3
Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait. 61 56
18019373 2007
4
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome. 56 61
12400075 2002
5
Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome. 56 61
3149147 1988
6
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene. 61
30936464 2019

Variations for Schilbach-Rott Syndrome

Expression for Schilbach-Rott Syndrome

Search GEO for disease gene expression data for Schilbach-Rott Syndrome.

Pathways for Schilbach-Rott Syndrome

GO Terms for Schilbach-Rott Syndrome

Sources for Schilbach-Rott 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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