BBRSAY
MCID: BRB006
MIFTS: 37

Barber-Say Syndrome (BBRSAY)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Barber-Say Syndrome

MalaCards integrated aliases for Barber-Say Syndrome:

Name: Barber-Say Syndrome 57 12 73 58 72 36 29 6 15 39
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia 57 20 72
Barber Say Syndrome 20 44 70
Bbrsay 57 72
Bss 57 72
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome 58
Hypertrichosis Atrophic Skin Ectropion Macrostomia 20

Characteristics:

Orphanet epidemiological data:

58
barber-say syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
barber-say syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Barber-Say Syndrome

GARD : 20 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). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.

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

Disease Ontology : 12 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.

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 05-Apr-2021)

KEGG : 36 Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that AMS is due to mutations in TWIST2.

UniProtKB/Swiss-Prot : 72 Barber-Say syndrome: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.

Wikipedia : 73 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 54)
# Related Disease Score Top Affiliating Genes
1 ablepharon-macrostomia syndrome 31.9 TWIST2 CFAP47
2 bernard-soulier syndrome 11.5
3 camptocormism 11.3
4 brooke-spiegler syndrome 11.3
5 brown-sequard syndrome 11.1
6 say syndrome 10.7
7 macrostomia, isolated 10.6
8 hypertrichosis 10.5
9 ectropion 10.5
10 hypertelorism 10.4
11 bronchitis 10.1
12 cleft palate, isolated 10.1
13 keratitis, hereditary 10.1
14 telecanthus 10.1
15 focal facial dermal dysplasia 3, setleis type 10.1
16 taurodontism 10.1
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 gingival fibromatosis 10.1
19 hypospadias 10.1
20 ectodermal dysplasia 10.1
21 keratopathy 10.1
22 skin atrophy 10.1
23 cutis laxa 10.1
24 exposure keratitis 10.1
25 fibromatosis 10.1
26 retinal detachment 10.0
27 endophthalmitis 10.0
28 sweeney-cox syndrome 9.9 TWIST2 CFAP47
29 apert syndrome 9.9 TWIST2 CFAP47
30 focal facial dermal dysplasia 9.9 TWIST2 CYP26C1
31 vitreoretinopathy, neovascular inflammatory 9.8
32 glaucoma-related pigment dispersion syndrome 9.8
33 mycobacterium tuberculosis 1 9.8
34 hamamy syndrome 9.8
35 major affective disorder 8 9.8
36 major affective disorder 9 9.8
37 mild cognitive impairment 9.8
38 common cold 9.8
39 von willebrand's disease 9.8
40 thrombocytopenia 9.8
41 epilepsy 9.8
42 focal epilepsy 9.8
43 pulmonary tuberculosis 9.8
44 early myoclonic encephalopathy 9.8
45 bipolar disorder 9.8
46 lymphopenia 9.8
47 epilepsy with generalized tonic-clonic seizures 9.8
48 48,xyyy 9.8
49 seizure disorder 9.8
50 rare hemorrhagic disorder 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 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hearing impairment 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000365
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
7 delayed eruption of teeth 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000684
8 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
9 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
10 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
11 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
12 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
13 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
14 ectropion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000656
15 sparse or absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0200102
16 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
17 hypoplastic nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002557
18 breast aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100783
19 atresia of the external auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0000413
20 shawl scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000049
21 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
22 ablepharon 58 31 occasional (7.5%) Occasional (29-5%) HP:0011224
23 intellectual disability 31 occasional (7.5%) HP:0001249
24 micrognathia 31 occasional (7.5%) HP:0000347
25 high, narrow palate 31 occasional (7.5%) HP:0002705
26 mandibular prognathia 31 HP:0000303
27 dry skin 31 HP:0000958
28 low-set ears 31 HP:0000369
29 abnormality of the face 58 Very frequent (99-80%)
30 thin vermilion border 31 HP:0000233
31 underdeveloped nasal alae 31 HP:0000430
32 abnormality of female external genitalia 31 HP:0000055
33 abnormality of male external genitalia 31 HP:0000032
34 absent nipple 31 HP:0002561
35 dermal atrophy 31 HP:0004334
36 hypertrichosis 31 HP:0000998
37 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 29 TWIST2

Anatomical Context for Barber-Say Syndrome

MalaCards organs/tissues related to Barber-Say Syndrome:

40
Skin, Eye, Breast

Publications for Barber-Say Syndrome

Articles related to Barber-Say Syndrome:

(show all 28)
# Title Authors PMID Year
1
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 6 57 61
26119818 2015
2
Barber-Say syndrome in a father and daughter. 61 6 57
20799330 2010
3
Oral and dental abnormalities in Barber-Say syndrome. 61 6 57
20830793 2010
4
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. 6 57 61
19760652 2009
5
What syndrome is this? Barber-Say syndrome. 61 57 6
16650233 2006
6
Barber-Say Syndrome: report of a new case. 61 57 6
9674915 1998
7
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. 61 6 57
8368246 1993
8
Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. 6 57
1867254 1991
9
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. 6 61
28680619 2017
10
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. 6 61
27092433 2016
11
Ablepharon-macrostomia syndrome. 61 57
11807864 2002
12
Autosomal dominant inheritance of Barber-Say syndrome. 57 61
10440829 1999
13
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. 61 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
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 61
30455119 2019
18
Barber Say Syndrome (A New Case Report). 61
30984591 2019
19
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018
20
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. 61
29329175 2018
21
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017
22
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 61
28690482 2017
23
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 61
27196381 2016
24
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. 61
29497666 2016
25
A case of Barber-Say syndrome in a male Japanese newborn. 61
25614816 2014
26
Oculoplastic approach to treating Barber-Say syndrome. 61
16714944 2006
27
[Barber-Say syndrome]. 61
11462424 2001
28
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. 61
8834257 1996

Variations for Barber-Say Syndrome

ClinVar genetic disease variations for Barber-Say Syndrome:

6
# 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.229_234dup (p.Gln77_Arg78dup) Duplication Pathogenic 208079 rs869320750 GRCh37: 2:239757079-239757080
GRCh38: 2:238848438-238848439
3 TWIST2 NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) SNV Pathogenic 208078 rs1553565140 GRCh37: 2:239757079-239757079
GRCh38: 2:238848438-238848438

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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