Rare Endocrinology News
Disease Profile
Barber Say syndrome
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
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 |
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
- 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.
- 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.
- 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.
- 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.