has material basis in germline mutation in EFNB1 syndromic disease craniofrontonasal syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/craniofrontonasal_syndrome An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. MEDGEN:65095 UMLS:C0220767 SCTID:715421009 CFND craniofrontonasal dysplasia GARD:0001578 CFNS craniofrontonasal dysplasia, X-linked dominant craniofrontonasal syndrome Craniofrontonasal Dysplasia MESH:C536456 MONDO:0010570 Orphanet:1520 OMIM:304110 DOID:14737 NORD:1012 frontonasal dysplasia skeletal dysplasia acrofacial dysostosis X-linked syndromic intellectual disability neurocristopathy