Barber-Say syndrome
Findings
No curated finding names Barber-Say syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
Definition from the Mondo Disease Ontology (MONDO:0008853), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bulbous noseHPOHP:0000414
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- HypertrichosisHPOHP:0000998
- 12 of 12 reported patients
- Wide mouthHPOHP:0000154
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- EctropionHPOHP:0000656
- 11 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- 1 of 12 reported patients
Show the remaining 47
- HypertelorismHPOHP:0000316
- 4 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- 8 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Sparse or absent eyelashesHPOHP:0200102
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- 3 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Hypoplastic nipplesHPOHP:0002557
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TWIST2HGNC:20670
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Barber-Say syndrome
- Also called
- hypertrichosis-atrophic skin-ectropion-macrostomia syndrome