BRSS
MCID: SCH055
MIFTS: 23

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 57 53 59 72
Blepharofacioskeletal Syndrome 57 53 29
Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 57 53
Brss 57 59
Hypotelorism-Cleft Palate-Hypospadias Syndrome 59
Cleft Palate, Hypotelorism, and Hypospadias 57
Hypotelorism Cleft Palate Hypospadias 53
Blepharofacioskeletal Syndrome; Brss 57
Brooke-Spiegler Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
schilbach-rott syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
schilbach-rott syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 164220
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1834038
Orphanet 59 ORPHA2353
MedGen 42 C1834038
UMLS 72 C1834038 C1857941

Summaries for Schilbach-Rott Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2353DefinitionSchilbach-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.EpidemiologySRS has been described in 18 individuals to date. Its prevalence is unknown.Clinical descriptionFeatures 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.EtiologyEtiology is unknown.Genetic counselingTransmission is autosomal dominant with variable expressivity.Visit the Orphanet disease page for more resources.

MalaCards based summary : Schilbach-Rott Syndrome, also known as blepharofacioskeletal syndrome, is related to brooke-spiegler syndrome and cylindromatosis, familial. Related phenotypes are short stature and intellectual disability, mild

OMIM : 57 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:

(show all 13)
# 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 amyotrophy, hereditary neuralgic 10.5
9 learning disability 10.5
10 microcephaly 10.5
11 chromosome 2q35 duplication syndrome 10.4
12 blepharophimosis 10.4
13 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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 intellectual disability, mild 32 occasional (7.5%) HP:0001256
3 clinodactyly 32 HP:0030084
4 microtia 32 HP:0008551
5 microcephaly 32 HP:0000252
6 micrognathia 32 HP:0000347
7 epicanthus 32 HP:0000286
8 narrow mouth 32 HP:0000160
9 attention deficit hyperactivity disorder 32 HP:0007018
10 hypospadias 32 HP:0000047
11 upslanted palpebral fissure 32 HP:0000582
12 blepharophimosis 32 HP:0000581
13 hypotelorism 32 HP:0000601
14 long nose 32 HP:0003189
15 bifid uvula 32 HP:0000193
16 prominent nose 32 HP:0000448
17 submucous cleft hard palate 32 HP:0000176
18 posteriorly rotated ears 32 HP:0000358
19 2-3 toe cutaneous syndactyly 32 HP:0005709
20 3-4 finger cutaneous syndactyly 32 HP:0011939

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
syndactyly

Head And Neck Mouth:
cleft palate
bifid uvula
small mouth

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Nose:
long nose
prominent nose

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

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder

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

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 Blepharofacioskeletal Syndrome 29

Anatomical Context for Schilbach-Rott Syndrome

Publications for Schilbach-Rott Syndrome

Articles related to Schilbach-Rott Syndrome:

# Title Authors PMID Year
1
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. 38 8
19921646 2009
2
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. 38 8
18627062 2008
3
Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait. 38 8
18019373 2007
4
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome. 38 8
12400075 2002
5
Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome. 8
3149147 1988
6
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene. 38
30936464 2019
7
[Blepharofacioskeletal syndrome]. 38
11462438 2001
8
Newly recognized blepharofacioskeletal syndrome. 38
8362901 1993

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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