MCID: BRB006
MIFTS: 35

Barber-Say Syndrome

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

Aliases & Classifications for Barber-Say Syndrome

MalaCards integrated aliases for Barber-Say Syndrome:

Name: Barber-Say Syndrome 54 12 24 56 71 29 14
Barber Say Syndrome 50 42 69
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia 50 71
Bbrsay 24 71
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome 56
Hypertrichosis, Atrophic Skin, Ectropion and Macrostomia 24
Hypertrichosis Atrophic Skin Ectropion Macrostomia 50
Bss 71

Characteristics:

Orphanet epidemiological data:

56
barber-say syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
barber-say syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Barber-Say Syndrome

NIH Rare Diseases : 50 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. last updated: 8/10/2015

MalaCards based summary : Barber-Say Syndrome, also known as barber say syndrome, is related to ablepharon-macrostomia syndrome and bernard-soulier syndrome, type c, and has symptoms including failure to thrive, bulbous nose and wide mouth. An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, breast and eye.

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 : 54
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)

CDC : 3 BSE (bovine spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible agent called a prion. The nature of the transmissible agent is not well understood. Currently, the most accepted theory is that the agent is a modified form of a normal protein known as prion protein. For reasons that are not yet understood, the normal prion protein changes into a pathogenic (harmful) form that then damages the central nervous system of cattle.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Barber-Say Syndrome

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 ablepharon-macrostomia syndrome 30.5 CYP26C1 LAX1 TWIST2
2 bernard-soulier syndrome, type c 11.5
3 camptocormism 11.2
4 brooke-spiegler syndrome 11.0
5 brown-sequard syndrome 11.0
6 say syndrome 10.6
7 ectropion 10.1
8 hypertrichosis 10.1
9 bronchitis 10.0
10 common cold 9.8
11 endophthalmitis 9.8
12 aplasia cutis congenita recessive 9.4 CYP26C1 TWIST2
13 follicular lymphoreticuloma 9.1 CYP26C1 TWIST2
14 coronary artery disease 8.8 CYP26C1 LAX1 TWIST2

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



Diseases related to Barber-Say Syndrome

Symptoms & Phenotypes for Barber-Say Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
bulbous nose
hypoplastic alae nasi

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

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

Chest- Breasts:
hypoplastic nipples
absent nipples

Head And Neck- Teeth:
delayed eruption (rare)

Genitourinary- External Genitalia Male:
anomalous

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

Skin Nails & Hair- Skin:
dry skin
redundant skin

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

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

Genitourinary- External Genitalia Female:
anomalous

Skin Nails & Hair- Hair:
hypertrichosis, generalized


Clinical features from OMIM:

209885

Human phenotypes related to Barber-Say Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 bulbous nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000414
3 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
4 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
5 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 shawl scrotum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000049
7 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
8 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 sparse or absent eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0200102
10 hypoplastic nipples 56 32 frequent (33%) Frequent (79-30%) HP:0002557
11 ectropion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000656
12 redundant skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0001582
13 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
14 hyperextensible skin 56 32 frequent (33%) Frequent (79-30%) HP:0000974
15 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
16 delayed eruption of teeth 56 32 occasional (7.5%) Very frequent (99-80%) HP:0000684
17 breast aplasia 56 32 frequent (33%) Frequent (79-30%) HP:0100783
18 abnormality of the pinna 56 32 occasional (7.5%) Occasional (29-5%) HP:0000377
19 aplasia/hypoplasia of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008065
20 aplasia/hypoplasia of the eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0100840
21 atresia of the external auditory canal 56 32 occasional (7.5%) Occasional (29-5%) HP:0000413
22 ablepharon 56 32 occasional (7.5%) Occasional (29-5%) HP:0011224
23 hypertrichosis 32 HP:0000998
24 low-set ears 32 HP:0000369
25 micrognathia 32 occasional (7.5%) HP:0000347
26 intellectual disability 32 occasional (7.5%) HP:0001249
27 thin vermilion border 32 HP:0000233
28 dry skin 32 HP:0000958
29 high, narrow palate 32 occasional (7.5%) HP:0002705
30 mandibular prognathia 32 HP:0000303
31 underdeveloped nasal alae 32 HP:0000430
32 abnormality of the face 56 Very frequent (99-80%)
33 abnormality of female external genitalia 32 HP:0000055
34 dermal atrophy 32 HP:0004334
35 sparse and thin eyebrow 32 HP:0000535
36 abnormality of male external genitalia 32 HP:0000032

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:

id Genetic test Affiliating Genes
1 Barber-Say Syndrome 29 24 TWIST2

Anatomical Context for Barber-Say Syndrome

MalaCards organs/tissues related to Barber-Say Syndrome:

39
Skin, Breast, Eye

Publications for Barber-Say Syndrome

Articles related to Barber-Say Syndrome:

(show all 14)
id Title Authors Year
1
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. ( 28690482 )
2017
2
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. ( 28680619 )
2017
3
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. ( 27092433 )
2016
4
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
5
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. ( 26119818 )
2015
6
A case of Barber-Say syndrome in a male Japanese newborn. ( 25614816 )
2014
7
Barber-Say syndrome in a father and daughter. ( 20799330 )
2010
8
Oral and dental abnormalities in Barber-Say syndrome. ( 20830793 )
2010
9
What syndrome is this? Barber-Say syndrome. ( 16650233 )
2006
10
Oculoplastic approach to treating Barber-Say syndrome. ( 16714944 )
2006
11
Autosomal dominant inheritance of Barber-Say syndrome. ( 10440829 )
1999
12
Barber-Say Syndrome: report of a new case. ( 9674915 )
1998
13
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. ( 9415700 )
1997
14
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. ( 8368246 )
1993

Variations for Barber-Say Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Ala VAR_074674 rs796065048
2 TWIST2 p.Glu75Gln VAR_074676 rs796065049

ClinVar genetic disease variations for Barber-Say Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TWIST2 NM_057179.2(TWIST2): c.224A> C (p.Glu75Ala) single nucleotide variant Pathogenic rs796065048 GRCh38 Chromosome 2, 238848439: 238848439
2 TWIST2 NM_057179.2(TWIST2): c.223G> C (p.Glu75Gln) single nucleotide variant Pathogenic rs796065049 GRCh38 Chromosome 2, 238848438: 238848438
3 TWIST2 NM_057179.2(TWIST2): c.229_234dupCAGCGC (p.Arg78_Thr79insGlnArg) duplication Pathogenic rs869320750 GRCh38 Chromosome 2, 238848444: 238848449

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....