has material basis in germline mutation in TWIST2 hypertrichosis of eyelid Barber-Say syndrome https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome https://www.malacards.org/card/barber_say_syndrome_2 OMIM:209885 Barber Say syndrome DOID:0060549 Bss Barber-Say syndrome MEDGEN:230818 BARBER-SAY syndrome UMLS:C1319466 hypertrichosis atrophic skin ectropion macrostomia SCTID:408537003 MONDO:0008853 icd11.foundation:37248895 Orphanet:1231 Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. GARD:0000819 BBRSAY NORD:875 hypertrichosis, atrophic skin, ectropion, and macrostomia hypertrichosis-atrophic skin-ectropion-macrostomia syndrome MESH:C537908 Brown Séquard Syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability ectodermal dysplasia syndrome congenital entropion