syndromic intellectual disability hereditary disease intellectual disability-brachydactyly-Pierre Robin syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/intellectual_disability_brachydactyly_pierre_robin_syndrome https://www.malacards.org/card/robin_sequence_with_distinctive_facial_appearance_and_brachydactyly MESH:C563880 Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. MONDO:0012095 Orphanet:364577 MEDGEN:325196 UMLS:C1837564 OMIM:608670 GARD:0017583 multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete syndrome or malformation associated with head and neck malformations dysostosis congenital limb malformation