4 free views remaining today
Barber-Say syndrome
ICD-10 Codes
Related ICD-10:
Description
Barber-Say syndrome, also known as BSS, is a rare congenital disorder characterized by several distinct physical features.
- Excessive hair growth: One of the hallmark symptoms of BSS is excessive hair growth, also known as hypertrichosis. This can occur all over the body, but it's particularly noticeable on the back.
- Fragile skin: Individuals with BSS often have fragile and atrophic (paper-thin) skin, which can be prone to tearing or bruising.
- Ectropion: Ectropion is a condition where the eyelids turn outward, exposing the white part of the eyes. This can be a noticeable feature in people with BSS.
- Macrostomia and thin lips: Some individuals with BSS may have a large mouth and thin lips, which can give their face a distinctive appearance.
- Bulbous nose: The nose may appear bulbous or rounded in shape.
- Atrophic thoracic skin: The skin on the chest (thorax) can be atrophic and fragile.
- Redundant facial skin: In some cases, there may be redundant or excess facial skin.
It's worth noting that Barber-Say syndrome is a rare condition, and not all individuals with BSS will exhibit all of these physical features. The severity and presentation of the symptoms can vary from person to person.
References:
- [1] - A rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid abnormalities, and other distinctive physical features.
- [2] - A very rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as atrophy, ectropion, and redundant facial skin.
- [3] - A rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion, and other physical features.
Additional Characteristics
- Excessive hair growth
- Ectropion
- Bulbous nose
- Fragile skin
- Macrostomia and thin lips
- Atrophic thoracic skin
- Redundant facial skin
Signs and Symptoms
Barber-Say syndrome (BSS) is a rare congenital disorder characterized by several distinct signs and symptoms. According to various sources, the following are some of the common features associated with BSS:
- Excessive hair growth (hypertrichosis): This is one of the most notable features of BSS, where individuals may experience excessive hair growth on their body.
- Fragile (atrophic) skin: People with BSS often have fragile and thin skin that can be prone to tearing or bruising.
- Outward turned eyelids (ectropion): This is a condition where the eyelids are turned outward, which can cause discomfort and vision problems.
- Large mouth (macrostomia): Individuals with BSS may have an abnormally large mouth, which can affect their facial appearance.
Additionally, some sources also mention the following symptoms:
- Abnormality of head or neck: This can include features such as anteverted nares (upturned nostrils), brachydactyly (short fingers), and absent nipple.
- Generalized hypertrichosis: This refers to excessive hair growth on various parts of the body, not just limited to specific areas.
It's essential to note that each individual with BSS may experience a unique combination of these symptoms, and the severity can vary from person to person. A proper diagnosis by a medical professional is necessary for an accurate assessment of the condition.
References:
- [1] - Excessive hair growth (hypertrichosis) is a common feature of BSS.
- [2] - Fragile (atrophic) skin is another characteristic of BSS.
- [3] - Outward turned eyelids (ectropion) and large mouth (macrostomia) are also associated with BSS.
- [4], [5], [9] - These sources mention additional symptoms such as abnormality of head or neck, generalized hypertrichosis, and others.
Additional Symptoms
- Abnormality of head or neck
- Excessive hair growth (hypertrichosis)
- Fragile (atrophic) skin
- Outward turned eyelids (ectropion)
- Large mouth (macrostomia)
- Generalized hypertrichosis
Diagnostic Tests
To determine the diagnostic tests for Barber-Say syndrome, several methods can be employed.
- A genetic test is typically requested by a child's provider to confirm a diagnosis [1]. This involves removing a small sample of your child's tissue.
- Diagnostic teams for Barber-Say syndrome may include a comprehensive evaluation by a team of specialists, including a geneticist, dermatologist, and craniofacial specialist [5].
- A medical evaluation and routine blood test can also be performed to aid in diagnosis [7].
- Skin biopsy and imaging are other diagnostic tools that may be used to examine the skin abnormalities associated with Barber-Say syndrome [7].
It's worth noting that internal proficiency testing is conducted biannually for some tests, including those related to genetic disorders like Barber-Say syndrome [4]. This ensures that the test results are accurate and reliable.
In some cases, it may be possible to diagnose Barber-Say syndrome without genetic testing, as clinical symptoms and physical examinations can give an indication of the condition [8].
References: [1] Context result 1 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8
Additional Diagnostic Tests
- Genetic test
- Comprehensive evaluation by a team of specialists
- Medical evaluation and routine blood test
- Skin biopsy and imaging
Treatment
Treatment for Barber Say Syndrome
Barber Say syndrome, a rare condition characterized by excessive hair growth (hypertrichosis), papery thin and fragile skin, and other ectodermal dysplasia features, currently has no cure. However, treatment focuses on managing the symptoms and improving the quality of life for those affected.
- Symptom management: Treatment for Barber Say syndrome is unique for each child based on their specific condition [1]. The goal is to manage the symptoms and prevent complications.
- Surgical interventions: Correction of selected anomalies such as ectropion (a condition where the eyelids turn outward) and cleft palate may be indicated [8].
- No known treatment: There is no known treatment for this disorder, but managing its symptoms can help improve the quality of life.
It's essential to note that treatment options are limited, and more research is needed to understand the underlying causes of Barber Say syndrome. A multidisciplinary approach involving dermatologists, surgeons, and other specialists may be necessary to provide comprehensive care.
References:
[1] Management and Treatment There's no cure for Barber Say syndrome. Treatment for the condition is unique for each child based on their specific ... (Search Result 1) [8] There is no known treatment for this disorder but correction of selected anomalies such as ectropion and cleft palate may be indicated. (Search Result 8)
Recommended Medications
- Surgical interventions
- No known treatment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Barber-Say syndrome, also known as Ablepharon-Macrostomia Syndrome (AMS), is a rare genetic disorder characterized by distinct craniofacial, skin, and limb anomalies.
Key Differential Diagnoses:
- Barber-Say syndrome: A genetic disorder caused by mutations in the TWIST2 gene, leading to congenital generalized hypertrichosis, atrophic skin, ectropion, and other characteristic features.
- Ablepharon-Macrostomia Syndrome (AMS): A rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion, and other similar features to Barber-Say syndrome.
Other Conditions to Consider:
- Normal variant hypertrichosis: Increased total body hair that can be mistaken for hypertrichosis associated with Barber-Say syndrome.
- Maternal alcohol abuse during pregnancy: Can cause congenital abnormalities, including ectropion and other facial dysmorphisms.
- Systemic illness: Certain systemic conditions, such as hypothyroidism, can lead to similar symptoms.
Key Features to Distinguish:
- TWIST2 gene mutation: A genetic change in the TWIST2 gene is a hallmark of Barber-Say syndrome.
- Ectropion and ablepharon: Ectropion (outward turning eyelids) and ablepharon (absence or underdevelopment of eyelids) are characteristic features of both Barber-Say syndrome and AMS.
References:
- Marchegiani et al. 13 reported several individuals with Barber-Say syndrome and ablepharon macrostomia who have documented pathogenic TWIST2 mutations.
- K Suga (2014) highlighted the importance of distinguishing between ectropion in BSS and ablepharon or microblepharon in AMS.
- Orphanet has a summary about Barber Say Syndrome that may include information on diagnosis, care, and treatment as well as other resources.
Note: The above answer is based on the search results provided in the context.
Additional Differential Diagnoses
- Barber-Say syndrome
- ablepharon macrostomia syndrome
- Normal variant hypertrichosis
- Maternal alcohol abuse during pregnancy
- Systemic illness
- N syndrome
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1569
- owl#annotatedSource
- t341369
- relatedICD
- http://example.org/icd10/Z89.621
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060549
- oboInOwl#hasDbXref
- UMLS_CUI:C1319466
- IAO_0000115
- 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.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- core#notation
- DOID:0060549
- rdf-schema#label
- Barber-Say syndrome
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_225
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.