MCID: SCH055
MIFTS: 22

Schilbach-Rott Syndrome

Categories: Rare diseases

Aliases & Classifications for Schilbach-Rott Syndrome

MalaCards integrated aliases for Schilbach-Rott Syndrome:

Name: Schilbach-Rott Syndrome 58 54 74
Blepharofacioskeletal Syndrome 58 54 30
Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 58 54
Cleft Palate, Hypotelorism, and Hypospadias 58
Hypotelorism Cleft Palate Hypospadias 54
Blepharofacioskeletal Syndrome; Brss 58
Brooke-Spiegler Syndrome 74
Brss 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

33
schilbach-rott syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Schilbach-Rott Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2353Disease definitionSchilbach-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 : 58 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:

# Related Disease Score Top Affiliating Genes
1 brooke-spiegler syndrome 11.5
2 cylindromatosis, familial 11.1
3 cowden syndrome 1 11.1
4 trichoepithelioma, multiple familial, 1 11.1
5 cleft palate, isolated 10.6
6 hypospadias 10.5
7 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:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 short stature 33 occasional (7.5%) HP:0004322
2 intellectual disability, mild 33 occasional (7.5%) HP:0001256
3 clinodactyly 33 HP:0030084
4 microtia 33 HP:0008551
5 microcephaly 33 HP:0000252
6 micrognathia 33 HP:0000347
7 epicanthus 33 HP:0000286
8 attention deficit hyperactivity disorder 33 HP:0007018
9 hypospadias 33 HP:0000047
10 narrow mouth 33 HP:0000160
11 upslanted palpebral fissure 33 HP:0000582
12 blepharophimosis 33 HP:0000581
13 hypotelorism 33 HP:0000601
14 long nose 33 HP:0003189
15 bifid uvula 33 HP:0000193
16 prominent nose 33 HP:0000448
17 submucous cleft hard palate 33 HP:0000176
18 posteriorly rotated ears 33 HP:0000358
19 2-3 toe cutaneous syndactyly 33 HP:0005709
20 3-4 finger cutaneous syndactyly 33 HP:0011939

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Schilbach-Rott Syndrome

Publications for Schilbach-Rott Syndrome

Articles related to Schilbach-Rott Syndrome:

# Title Authors Year
1
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene. ( 30936464 )
2019
2
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. ( 19921646 )
2009
3
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. ( 18627062 )
2008
4
Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait. ( 18019373 )
2007
5
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome. ( 12400075 )
2002
6
Newly recognized blepharofacioskeletal syndrome. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....