has material basis in germline mutation in TWIST2 syndromic disease hereditary disease ablepharon macrostomia syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/ablepharon_macrostomia_syndrome_2 SCTID:718575002 OMIM:200110 MONDO:0008693 MEDGEN:395439 congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies NORD:704 ablepharon-macrostomia syndrome AMS MESH:C535557 UMLS:C1860224 DOID:0060550 Orphanet:920 GARD:0000003 Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Ablepharon-Macrostomia Syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome