has material basis in germline mutation in FGFR3 autosomal dominant disease skin disorder severe achondroplasia-developmental delay-acanthosis nigricans syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/achondroplasia_severe_with_developmental_delay_and_acanthosis_nigricans UMLS:C2674173 DOID:0111158 ICD9:783.40 SCTID:699870002 MEDGEN:393098 GARD:0009443 PMID:10053006 ICD9:757.39 SADDAN MONDO:0014658 SADDAN dysplasia Orphanet:85165 achondroplasia, severe, with developmental delay and acanthosis nigricans OMIM:616482 A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). obsolete primary bone dysplasia with micromelia epidermal disease FGFR3-related chondrodysplasia