has material basis in germline mutation in GLI3 syndromic disease Greig cephalopolysyndactyly syndrome https://github.com/monarch-initiative/mondo/issues/10188 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome https://www.malacards.org/card/greig_cephalopolysyndactyly_syndrome GLI3-related Greig cephalopolysyndactyly spectrum GARD:0006550 MedDRA:10053878 Greig syndrome Greig's syndrome MESH:C537300 Greig cephalopolysyndactyly syndrome Orphanet:380 GCPS MEDGEN:120531 UMLS:C0265306 SCTID:32985001 Greig cephalosyndactyly syndrome OMIM:175700 NCIT:C35255 MONDO:0008287 polysyndactyly with peculiar skull shape icd11.foundation:606500237 A syndromic disease caused by a variation in the GLI3 gene, characterized by hypertelorism, macrocephaly accompanied by frontal bossing, and polysyndactyly. The polydactyly is most frequently preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly. The limb findings are quite variable. Less common features are central nervous system abnormalities, hernias, and neurological disability. DOID:14761 NORD:1206 acrocephalosyndactyly polydactyly-syndactyly-triphalangism