Schilbach-Rott syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BLEPHAROFACIOSKELETAL SYNDROME
OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS
CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS
BRSS
Blepharo-facio-skeletal syndrome
Hypotelorism - cleft palate - hypospadias
Number of Symptoms 49
OrphanetNr: 2353
OMIM Id: 164220
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 13 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0000448) Prominent nose 56 / 7739
3
 (HPO:0003189) Long nose 20 / 7739
4
 (HPO:0000307) Pointed chin Very frequent [Orphanet] 45 / 7739
5
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
9
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
10
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
11
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
12
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
13
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
14
 (HPO:0000337) Broad forehead Occasional [Orphanet] 116 / 7739
15
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
16
 (HPO:0000349) Widow's peak Very frequent [Orphanet] 26 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
19
 (HPO:0000193) Bifid uvula 66 / 7739
20
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
21
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
22
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
23
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
24
 (HPO:0008551) Microtia 98 / 7739
25
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
26
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
27
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
28
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
29
 (HPO:0011939) 3-4 finger cutaneous syndactyly 2 / 7739
30
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
31
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
32
 (HPO:0004684) Talipes valgus Occasional [Orphanet] 28 / 7739
33
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
34
 (HPO:0001833) Long foot Occasional [Orphanet] 33 / 7739
35
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
36
 (HPO:0005709) 2-3 toe cutaneous syndactyly 2 / 7739
37
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
38
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
39
 (HPO:0001159) Syndactyly 140 / 7739
40
 (HPO:0001847) Long hallux Occasional [Orphanet] 13 / 7739
41
 (HPO:0100625) Enlarged thorax Occasional [Orphanet] 15 / 7739
42
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
43
 (HPO:0004322) Short stature Occasional [Orphanet] rare [HPO:skoehler] 1232 / 7739
44
 (MedDRA:10058668) Clinodactyly 91 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
46
 (HPO:0030084) Clinodactyly 90 / 7739
47
 (HPO:0003812) Phenotypic variability 129 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (OMIM) Asymmetric face 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM In 10 persons over 5 generations of a family, Schilbach and Rott (1988) found ocular hypotelorism, submucosal cleft palate, and, in males, hypospadias. Other anomalies were blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of ...