BBRSAY
MCID: BRB006
MIFTS: 40

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 75 59 74 37 29 6 15 40
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia 57 53 74
Barber Say Syndrome 53 44 72
Bbrsay 57 74
Bss 57 74
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome 59
Hypertrichosis Atrophic Skin Ectropion Macrostomia 53

Characteristics:

Orphanet epidemiological data:

59
barber-say syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
barber-say syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060549
OMIM 57 209885
KEGG 37 H01934
MESH via Orphanet 45 C537908
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1319466
Orphanet 59 ORPHA1231
MedGen 42 C1319466
UMLS 72 C1319466

Summaries for Barber-Say Syndrome

NIH Rare Diseases : 53 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 say syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways is Proteoglycans in cancer. Affiliated tissues include skin, eye and breast, and related phenotypes are hypertelorism and failure to thrive

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)

KEGG : 37
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 : 74 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 : 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:

(showing 49, show less)
# Related Disease Score Top Affiliating Genes
1 ablepharon-macrostomia syndrome 32.5 TWIST2 CYP26C1
2 say syndrome 31.2 TWIST2 LOC100287387
3 bernard-soulier syndrome 12.2
4 camptocormism 11.6
5 brooke-spiegler syndrome 11.5
6 brown-sequard syndrome 11.4
7 macrostomia, isolated 10.7
8 hypertrichosis 10.7
9 ectropion 10.6
10 hypertelorism 10.5
11 bronchitis 10.4
12 endophthalmitis 10.2
13 cataract 10.2
14 cleft palate, isolated 10.2
15 keratitis, hereditary 10.2
16 telecanthus 10.2
17 focal facial dermal dysplasia 3, setleis type 10.2
18 taurodontism 10.2
19 immunodeficiency, common variable, 10 10.2
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
21 helix syndrome 10.2
22 gingival fibromatosis 10.2
23 hypospadias 10.2
24 ectodermal dysplasia 10.2
25 keratopathy 10.2
26 skin atrophy 10.2
27 cutis laxa 10.2
28 exposure keratitis 10.2
29 fibromatosis 10.2
30 retinal detachment 10.1
31 glaucoma-related pigment dispersion syndrome 10.1
32 major affective disorder 8 10.1
33 major affective disorder 9 10.1
34 common cold 10.1
35 visual epilepsy 10.1
36 focal epilepsy 10.1
37 pulmonary tuberculosis 10.1
38 early myoclonic encephalopathy 10.1
39 bipolar disorder 10.1
40 lymphopenia 10.1
41 epilepsy with generalized tonic-clonic seizures 10.1
42 48,xyyy 10.1
43 seizure disorder 10.1
44 rare surgical neurologic disease 10.1
45 focal facial dermal dysplasia 9.9 TWIST2 CYP26C1
46 aplasia cutis congenita 9.7 TWIST2 CYP26C1
47 partial trisomy distal 4q 9.6 TWIST2 TWIST1
48 saethre-chotzen syndrome 9.4 TWIST2 TWIST1
49 aortic valve disease 1 9.2 TWIST1 LAX1

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:

59 32 (showing 37, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hearing impairment 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000365
4 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 delayed eruption of teeth 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000684
7 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
8 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
9 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
10 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
11 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
12 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
13 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
14 ectropion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000656
15 sparse or absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0200102
16 hyperextensible skin 59 32 frequent (33%) Frequent (79-30%) HP:0000974
17 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
18 breast aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100783
19 abnormality of the pinna 59 32 occasional (7.5%) Occasional (29-5%) HP:0000377
20 atresia of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000413
21 shawl scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000049
22 ablepharon 59 32 occasional (7.5%) Occasional (29-5%) HP:0011224
23 intellectual disability 32 occasional (7.5%) HP:0001249
24 micrognathia 32 occasional (7.5%) HP:0000347
25 high, narrow palate 32 occasional (7.5%) HP:0002705
26 low-set ears 32 HP:0000369
27 mandibular prognathia 32 HP:0000303
28 dry skin 32 HP:0000958
29 underdeveloped nasal alae 32 HP:0000430
30 abnormality of the face 59 Very frequent (99-80%)
31 thin vermilion border 32 HP:0000233
32 abnormality of female external genitalia 32 HP:0000055
33 hypertrichosis 32 HP:0000998
34 abnormality of male external genitalia 32 HP:0000032
35 absent nipple 32 HP:0002561
36 dermal atrophy 32 HP:0004334
37 sparse and thin eyebrow 32 HP:0000535

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus
sparse eyebrows
eyelid ectropion

Skin Nails Hair Skin:
dry skin
redundant skin

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

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

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

UMLS symptoms related to Barber-Say Syndrome:


dry skin

MGI Mouse Phenotypes related to Barber-Say Syndrome:

46 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 CYP26C1 TWIST1 TWIST2
2 limbs/digits/tail MP:0005371 8.8 CYP26C1 TWIST1 TWIST2

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:

41
Skin, Eye, Breast

Publications for Barber-Say Syndrome

Articles related to Barber-Say Syndrome:

(showing 28, show less)
# Title Authors PMID Year
1
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 38 8 71
26119818 2015
2
Barber-Say syndrome in a father and daughter. 38 8 71
20799330 2010
3
Oral and dental abnormalities in Barber-Say syndrome. 38 8 71
20830793 2010
4
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. 38 8 71
19760652 2009
5
What syndrome is this? Barber-Say syndrome. 38 8 71
16650233 2006
6
Barber-Say Syndrome: report of a new case. 38 8 71
9674915 1998
7
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. 38 8 71
8368246 1993
8
Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. 8 71
1867254 1991
9
Ablepharon-macrostomia syndrome. 38 8
11807864 2002
10
Autosomal dominant inheritance of Barber-Say syndrome. 38 8
10440829 1999
11
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. 38 8
9415700 1997
12
Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome? 8
3068987 1988
13
Ablepharon macrostomia syndrome. 8
4003491 1985
14
Ablepheron macrostomia syndrome. 8
913905 1977
15
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 38
30455119 2019
16
Barber Say Syndrome (A New Case Report). 38
30984591 2019
17
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 38
30450715 2018
18
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. 38
29329175 2018
19
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 38
28663233 2017
20
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. 38
28680619 2017
21
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 38
28690482 2017
22
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. 38
27092433 2016
23
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 38
27196381 2016
24
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. 38
29497666 2016
25
A case of Barber-Say syndrome in a male Japanese newborn. 38
25614816 2014
26
Oculoplastic approach to treating Barber-Say syndrome. 38
16714944 2006
27
[Barber-Say syndrome]. 38
11462424 2001
28
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. 38
8834257 1996

Variations for Barber-Say Syndrome

ClinVar genetic disease variations for Barber-Say Syndrome:

6 (showing 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TWIST2 NM_057179.3(TWIST2): c.224A> C (p.Glu75Ala) single nucleotide variant Pathogenic rs1553565143 2:239757080-239757080 2:238848439-238848439
2 TWIST2 NM_057179.3(TWIST2): c.223G> C (p.Glu75Gln) single nucleotide variant Pathogenic rs1553565140 2:239757079-239757079 2:238848438-238848438
3 TWIST2 NM_057179.3(TWIST2): c.229_234dup (p.Gln77_Arg78dup) duplication Pathogenic rs869320750 2:239757085-239757090 2:238848444-238848449

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

74 (showing 2, show less)
# 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

Pathways related to Barber-Say Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 10.93 TWIST2 TWIST1

GO Terms for Barber-Say Syndrome

Biological processes related to Barber-Say Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of osteoblast differentiation GO:0045668 8.62 TWIST2 TWIST1

Molecular functions related to Barber-Say Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 8.62 TWIST2 TWIST1

Sources for Barber-Say 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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