has material basis in germline mutation in ZSWIM6 acromelic frontonasal dysostosis https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic https://www.malacards.org/card/acromelic_frontonasal_dysostosis frontonasal dysplasia acromelic MONDO:0011359 UMLS:C1863616 Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. OMIM:603671 SCTID:715427008 GARD:0005539 DOID:0060342 acromelic frontonasal dysostosis MEDGEN:350933 Orphanet:1827 AFND MESH:C566345 Toriello syndrome frontonasal dysplasia acrofacial dysostosis