camptodactyly syndrome, Guadalajara syndromic intellectual disability camptodactyly syndrome, Guadalajara type 3 https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3 https://www.malacards.org/card/camptodactyly_syndrome_guadalajara_type_iii Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. MONDO:0012759 MEDGEN:394371 Orphanet:488434 UMLS:C2677809 OMIM:611929 MESH:C567455 camptodactyly syndrome Guadalajara type 3 GARD:0010573 multiple congenital anomalies/dysmorphic syndrome-intellectual disability dysostosis