loading...| Preferred Name |
Barber-Say syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_1231 |
| alternative_term |
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome |
| definition |
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
Autosomal recessive Not applicable Autosomal dominant |
| hasDbXref |
OMIM:209885 ICD-10:Q87.0 MeSH:C537908 ICD-11:LD27.3 UMLS:C1319466 |
| label |
Barber-Say syndrome |
| notation |
ORPHA:1231 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_79365 |
| prefixIRI |
ORDO:Orphanet_1231 |
| prefLabel |
Barber-Say syndrome |
| present_in |
Worldwide AND has_cases/families_value : 16.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_79365 |
| subClassOf |