BBRSAY
MCID: BRB006
MIFTS: 39

Barber-Say Syndrome (BBRSAY)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Barber-Say Syndrome

MalaCards integrated aliases for Barber-Say Syndrome:

Name: Barber-Say Syndrome 57 11 58 75 73 28 5 14 38
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia 57 19 73
Barber Say Syndrome 19 43 71
Bbrsay 57 73
Bss 57 73
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome 58
Hypertrichosis Atrophic Skin Ectropion Macrostomia 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Barber-Say Syndrome

GARD: 19 Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion), and a large mouth (macrostomia). Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. At least some cases of Barber Say syndrome are caused by genetic changes in the TWIST2 gene that is inherited in an autosomal dominant pattern.

MalaCards based summary: Barber-Say Syndrome, also known as hypertrichosis, atrophic skin, ectropion, and macrostomia, is related to ablepharon-macrostomia syndrome and bernard-soulier syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, eye and breast, and related phenotypes are failure to thrive and hearing impairment

OMIM®: 57 Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010). (209885) (Updated 08-Dec-2022)

Disease Ontology: 11 A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

UniProtKB/Swiss-Prot: 73 A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.

Orphanet: 58 Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

Wikipedia: 75 Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth... more...

Related Diseases for Barber-Say Syndrome

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 ablepharon-macrostomia syndrome 32.0 TWIST2 CFAP47
2 bernard-soulier syndrome 11.6
3 brooke-spiegler syndrome 11.4
4 beare-stevenson cutis gyrata syndrome 11.1
5 brown-sequard syndrome 11.1
6 camptocormism 11.1
7 say syndrome 10.7
8 macrostomia, isolated 10.6
9 hypertrichosis 10.6
10 ectropion 10.5
11 hypertelorism 10.4
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
13 common cold 10.1
14 bronchitis 10.1
15 retinal detachment 10.1
16 covid-19 10.1
17 cleft palate, isolated 10.1
18 keratitis, hereditary 10.1
19 telecanthus 10.1
20 focal facial dermal dysplasia 3, setleis type 10.1
21 taurodontism 10.1
22 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
23 immunodeficiency, common variable, 10 10.1
24 gingival fibromatosis 10.1
25 hypospadias 10.1
26 ectodermal dysplasia 10.1
27 keratopathy 10.1
28 skin atrophy 10.1
29 cutis laxa 10.1
30 exposure keratitis 10.1
31 children's interstitial lung disease 10.1
32 fibromatosis 10.1
33 sweeney-cox syndrome 10.0 TWIST2 CFAP47
34 parkinson disease, late-onset 10.0
35 endophthalmitis 10.0
36 aplasia cutis congenita 10.0 TWIST2 CYP26C1
37 apert syndrome 9.9 TWIST2 CFAP47
38 alzheimer disease, familial, 1 9.8
39 macular dystrophy, dominant cystoid 9.8
40 neutrophilia, hereditary 9.8
41 vitreoretinopathy, neovascular inflammatory 9.8
42 hyperphenylalaninemia, bh4-deficient, a 9.8
43 toe syndactyly, telecanthus, and anogenital and renal malformations 9.8
44 hemophilia a 9.8
45 ocular pigment dispersion with or without glaucoma 9.8
46 dravet syndrome 9.8
47 human immunodeficiency virus type 1 9.8
48 hamamy syndrome 9.8
49 factor xi deficiency 9.8
50 microvascular complications of diabetes 5 9.8

Graphical network of the top 20 diseases related to Barber-Say Syndrome:



Diseases related to Barber-Say Syndrome

Symptoms & Phenotypes for Barber-Say Syndrome

Human phenotypes related to Barber-Say Syndrome:

58 30 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 hearing impairment 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000365
3 hypertelorism 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000316
4 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
5 anteverted nares 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000463
6 aplasia/hypoplasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008065
7 delayed eruption of teeth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000684
8 generalized hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002230
9 bulbous nose 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000414
10 telecanthus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000506
11 wide mouth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000154
12 redundant skin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001582
13 aplasia/hypoplasia of the eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100840
14 ectropion 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000656
15 sparse or absent eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200102
16 hyperextensible skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000974
17 hypoplastic nipples 58 30 Very rare (1%) Frequent (79-30%)
HP:0002557
18 breast aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100783
19 atresia of the external auditory canal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000413
20 shawl scrotum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000049
21 ablepharon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011224
22 abnormal pinna morphology 30 Occasional (7.5%) HP:0000377
23 intellectual disability 30 Very rare (1%) HP:0001249
24 high palate 30 Very rare (1%) HP:0000218
25 gingival overgrowth 30 Very rare (1%) HP:0000212
26 widely spaced teeth 30 Very rare (1%) HP:0000687
27 dental malocclusion 30 Very rare (1%) HP:0000689
28 delayed speech and language development 30 Very rare (1%) HP:0000750
29 cryptorchidism 30 Very rare (1%) HP:0000028
30 dry skin 30 Very rare (1%) HP:0000958
31 micrognathia 30 Very rare (1%) HP:0000347
32 low-set ears 30 Very rare (1%) HP:0000369
33 inverted nipples 30 Very rare (1%) HP:0003186
34 lipodystrophy 30 Very rare (1%) HP:0009125
35 talipes equinovarus 30 Very rare (1%) HP:0001762
36 brachydactyly 30 Very rare (1%) HP:0001156
37 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
38 low anterior hairline 30 Very rare (1%) HP:0000294
39 hypodontia 30 Very rare (1%) HP:0000668
40 thin vermilion border 30 Very rare (1%) HP:0000233
41 underdeveloped nasal alae 30 Very rare (1%) HP:0000430
42 hypoplasia of the maxilla 30 Very rare (1%) HP:0000327
43 wide nose 30 Very rare (1%) HP:0000445
44 stenosis of the external auditory canal 30 Very rare (1%) HP:0000402
45 hypoplastic labia majora 30 Very rare (1%) HP:0000059
46 sparse eyebrow 30 Very rare (1%) HP:0045075
47 sparse eyelashes 30 Very rare (1%) HP:0000653
48 absent nipple 30 Very rare (1%) HP:0002561
49 velopharyngeal insufficiency 30 Very rare (1%) HP:0000220
50 hypertrichosis 30 Very rare (1%) HP:0000998

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
telecanthus
sparse eyebrows
eyelid ectropion

Head And Neck Ears:
low-set ears
hearing loss (in some patients)
abnormally shaped ears

Chest Breasts:
hypoplastic nipples
absent nipples

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

Head And Neck Teeth:
delayed eruption (rare)

Genitourinary External Genitalia Female:
anomalous

Skin Nails Hair Skin:
dry skin
redundant skin

Head And Neck Nose:
bulbous nose
hypoplastic alae nasi

Head And Neck Face:
mandibular prognathism
micrognathia (in some patients)

Head And Neck Mouth:
macrostomia
thin lips
high-arched palate (in some patients)

Genitourinary External Genitalia Male:
anomalous

Skin Nails Hair Hair:
hypertrichosis, generalized

Clinical features from OMIM®:

209885 (Updated 08-Dec-2022)

UMLS symptoms related to Barber-Say Syndrome:


dry skin

Drugs & Therapeutics for Barber-Say Syndrome

Search Clinical Trials, NIH Clinical Center for Barber-Say Syndrome

Cochrane evidence based reviews: barber say syndrome

Genetic Tests for Barber-Say Syndrome

Genetic tests related to Barber-Say Syndrome:

# Genetic test Affiliating Genes
1 Barber-Say Syndrome 28 TWIST2

Anatomical Context for Barber-Say Syndrome

Organs/tissues related to Barber-Say Syndrome:

MalaCards : Skin, Eye, Breast

Publications for Barber-Say Syndrome

Articles related to Barber-Say Syndrome:

(show all 29)
# Title Authors PMID Year
1
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 62 57 5
26119818 2015
2
Barber-Say syndrome in a father and daughter. 62 57 5
20799330 2010
3
Oral and dental abnormalities in Barber-Say syndrome. 62 57 5
20830793 2010
4
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. 62 57 5
19760652 2009
5
What syndrome is this? Barber-Say syndrome. 62 57 5
16650233 2006
6
Barber-Say Syndrome: report of a new case. 62 57 5
9674915 1998
7
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. 62 57 5
8368246 1993
8
Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. 57 5
1867254 1991
9
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. 62 5
28680619 2017
10
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. 62 5
27092433 2016
11
Ablepharon-macrostomia syndrome. 62 57
11807864 2002
12
Autosomal dominant inheritance of Barber-Say syndrome. 62 57
10440829 1999
13
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. 62 57
9415700 1997
14
Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome? 57
3068987 1988
15
Ablepharon macrostomia syndrome. 57
4003491 1985
16
Ablepheron macrostomia syndrome. 57
913905 1977
17
Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2. 62
34092176 2022
18
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 62
30455119 2019
19
Barber Say Syndrome (A New Case Report). 62
30984591 2019
20
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 62
30450715 2018
21
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. 62
29329175 2018
22
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 62
28663233 2017
23
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 62
28690482 2017
24
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 62
27196381 2016
25
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. 62
29497666 2016
26
A case of Barber-Say syndrome in a male Japanese newborn. 62
25614816 2014
27
Oculoplastic approach to treating Barber-Say syndrome. 62
16714944 2006
28
[Barber-Say syndrome]. 62
11462424 2001
29
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. 62
8834257 1996

Variations for Barber-Say Syndrome

ClinVar genetic disease variations for Barber-Say Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TWIST2 NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala) SNV Pathogenic
208076 rs1553565143 GRCh37: 2:239757080-239757080
GRCh38: 2:238848439-238848439
2 TWIST2 NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) SNV Pathogenic
208078 rs1553565140 GRCh37: 2:239757079-239757079
GRCh38: 2:238848438-238848438
3 TWIST2 NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup) DUP Pathogenic
208079 rs869320750 GRCh37: 2:239757079-239757080
GRCh38: 2:238848438-238848439

UniProtKB/Swiss-Prot genetic disease variations for Barber-Say Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Ala VAR_074674 rs796065048
2 TWIST2 p.Glu75Gln VAR_074676 rs796065049

Expression for Barber-Say Syndrome

Search GEO for disease gene expression data for Barber-Say Syndrome.

Pathways for Barber-Say Syndrome

GO Terms for Barber-Say Syndrome

Sources for Barber-Say Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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