has material basis in germline mutation in RECQL4 autosomal recessive disease rapadilino syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome https://www.malacards.org/card/rapadilino_syndrome radial and patellar hypoplasia MONDO:0009955 absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate SCTID:702413000 OMIM:266280 rapadilino syndrome RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. NANDO:1201058 UMLS:C1849453 GARD:0004637 DOID:0050774 MEDGEN:336602 ICD9:759.89 radial and patellar aplasia icd11.foundation:1439614760 MESH:C535288 Orphanet:3021 multiple congenital anomalies/dysmorphic syndrome without intellectual disability dysostosis congenital limb malformation non-syndromic limb reduction defect