syndromic intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability facial dysmorphism-shawl scrotum-joint laxity syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/facial_dysmorphism_shawl_scrotum_joint_laxity_syndrome hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies Orphanet:1778 facial dysmorphism shawl scrotum joint laxity UMLS:C2931522 GARD:0004778 Seaver Cassidy syndrome MONDO:0015781 MEDGEN:419099 Seaver-Cassidy syndrome SCTID:716337006 MESH:C537529 Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.