Rare Neurology News

Disease Profile

Barber Say syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hypertrichosis, atrophic skin, ectropion, and macrostomia; Hypertrichosis atrophic skin ectropion macrostomia

Categories

Congenital and Genetic Diseases; Eye diseases; Skin Diseases

Summary

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.[1] Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive.[1][2][3] A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene.[4] Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow

[ more ]

0100840
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Bulbous nose
0000414
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Ectropion
Eyelid turned out
0000656
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Generalized hirsutism
Excessive hairiness over body
0002230
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin

[ more ]

0001582
Sparse or absent eyelashes
0200102
Telecanthus
Corners of eye widely separated
0000506
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Breast aplasia
Absent breast
0100783
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin

[ more ]

0000974
Hypoplastic nipples
Small nipples
0002557
5%-29% of people have these symptoms
Ablepharon
Absent eyelids
Missing eyelids

[ more ]

0011224
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Atresia of the external auditory canal
Absent ear canal
0000413
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Shawl scrotum
Scrotum surrounds penis
0000049
Percent of people who have these symptoms is not available through HPO
Abnormality of female external genitalia
Abnormal female external genitalia
0000055
Abnormality of male external genitalia
0000032
Absent nipple
Absent nipples
0002561
Autosomal dominant inheritance
0000006
Dermal atrophy
Skin degeneration
0004334
Dry skin
0000958
Hypertrichosis
0000998
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Barber Say syndrome. Click on the link to view a sample search on this topic.

References

  1. Barber-Say syndrome. Orphanet. January 2014; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1476. Accessed 8/10/2015.
  2. Roche N, Houtmeyers P, Janssens S, Blondeel P. Barber-Say syndrome in a father and daughter. Am J Med Genet. 2010 Oct; 152A(10):2563-8. https://www.ncbi.nlm.nih.gov/pubmed/20799330. Accessed 8/10/2015.
  3. Dinulos MB, Pagon RA. Autosomal dominant inheritance of Barber-Say syndrome. Am J Med Genet.. 1999 Sep 3; 86(1):54-6. https://www.ncbi.nlm.nih.gov/pubmed/10440829. Accessed 8/10/2015.
  4. Marchegiani S et al.. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 July 2; 97(1):99-110. https://www.ncbi.nlm.nih.gov/pubmed/26119818. Accessed 8/10/2015.