MCID: BRB006
MIFTS: 35

Barber-Say Syndrome

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

Aliases & Classifications for Barber-Say Syndrome

MalaCards integrated aliases for Barber-Say Syndrome:

Name: Barber-Say Syndrome 53 12 55 71 36 14
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia 53 49 71
Barber Say Syndrome 49 41 69
Bbrsay 53 71
Bss 53 71
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome 55
Hypertrichosis Atrophic Skin Ectropion Macrostomia 49

Characteristics:

Orphanet epidemiological data:

55
barber-say syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
barber-say syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Barber-Say Syndrome

NIH Rare Diseases : 49 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 hypertrichosis, atrophic skin, ectropion, and macrostomia, is related to ablepharon-macrostomia syndrome and bernard-soulier syndrome, and has symptoms including hypertelorism, failure to thrive and hearing impairment. An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, eye and breast.

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 : 53 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 16)
# Related Disease Score Top Affiliating Genes
1 ablepharon-macrostomia syndrome 31.0 CYP26C1 LAX1 TWIST2
2 bernard-soulier syndrome 11.9
3 camptocormism 11.3
4 brooke-spiegler syndrome 11.2
5 brown-sequard syndrome 11.1
6 say syndrome 10.6
7 macrostomia, isolated 10.4
8 ectropion 10.2
9 hypertrichosis 10.2
10 hypertelorism 10.1
11 bronchitis 10.0
12 mycobacterium tuberculosis 1 9.9
13 common cold 9.9
14 endophthalmitis 9.9
15 focal facial dermal dysplasia 9.4 CYP26C1 TWIST2
16 aplasia cutis congenita 9.3 CYP26C1 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:

53
Skin Nails Hair Skin:
dry skin
redundant skin

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

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 Eyes:
hypertelorism
telecanthus
sparse eyebrows
eyelid ectropion

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

Human phenotypes related to Barber-Say Syndrome:

55 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
4 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 delayed eruption of teeth 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000684
7 generalized hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002230
8 abnormality of the pinna 55 31 occasional (7.5%) Occasional (29-5%) HP:0000377
9 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
10 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
11 aplasia/hypoplasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008065
12 bulbous nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000414
13 redundant skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0001582
14 aplasia/hypoplasia of the eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0100840
15 hyperextensible skin 55 31 frequent (33%) Frequent (79-30%) HP:0000974
16 atresia of the external auditory canal 55 31 occasional (7.5%) Occasional (29-5%) HP:0000413
17 ectropion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000656
18 hypoplastic nipples 55 31 frequent (33%) Frequent (79-30%) HP:0002557
19 shawl scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000049
20 breast aplasia 55 31 frequent (33%) Frequent (79-30%) HP:0100783
21 ablepharon 55 31 occasional (7.5%) Occasional (29-5%) HP:0011224
22 sparse or absent eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0200102
23 dry skin 31 HP:0000958
24 low-set ears 31 HP:0000369
25 intellectual disability 31 occasional (7.5%) HP:0001249
26 mandibular prognathia 31 HP:0000303
27 micrognathia 31 occasional (7.5%) HP:0000347
28 high, narrow palate 31 occasional (7.5%) HP:0002705
29 underdeveloped nasal alae 31 HP:0000430
30 abnormality of the face 55 Very frequent (99-80%)
31 thin vermilion border 31 HP:0000233
32 abnormality of female external genitalia 31 HP:0000055
33 abnormality of male external genitalia 31 HP:0000032
34 dermal atrophy 31 HP:0004334
35 hypertrichosis 31 HP:0000998
36 sparse and thin eyebrow 31 HP:0000535

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

Anatomical Context for Barber-Say Syndrome

MalaCards organs/tissues related to Barber-Say Syndrome:

38
Skin, Eye, Breast

Publications for Barber-Say Syndrome

Articles related to Barber-Say Syndrome:

(show all 15)
# Title Authors Year
1
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. ( 29329175 )
2018
2
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. ( 28680619 )
2017
3
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. ( 28690482 )
2017
4
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
5
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. ( 27092433 )
2016
6
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. ( 26119818 )
2015
7
A case of Barber-Say syndrome in a male Japanese newborn. ( 25614816 )
2014
8
Oral and dental abnormalities in Barber-Say syndrome. ( 20830793 )
2010
9
Barber-Say syndrome in a father and daughter. ( 20799330 )
2010
10
Oculoplastic approach to treating Barber-Say syndrome. ( 16714944 )
2006
11
What syndrome is this? Barber-Say syndrome. ( 16650233 )
2006
12
Autosomal dominant inheritance of Barber-Say syndrome. ( 10440829 )
1999
13
Barber-Say Syndrome: report of a new case. ( 9674915 )
1998
14
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. ( 9415700 )
1997
15
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
# 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
# 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 GRCh37 Chromosome 2, 239757079: 239757079
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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