acrocephalopolydactyly https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/acrocephalopolydactylous_dysplasia MESH:C573722 GARD:0002096 OMIM:200995 MEDGEN:501209 Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. icd11.foundation:1177551296 SCTID:720417003 acrocephalopolydactylous dysplasia Orphanet:221054 Elejalde syndrome MONDO:0008709 UMLS:C3495588 syndromic craniosynostosis