Joubert syndrome and related disorders short rib-polydactyly syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy https://www.malacards.org/card/joubert_syndrome_with_jeune_asphyxiating_thoracic_dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. MEDGEN:1371401 Orphanet:397715 GARD:0017637 Joubert syndrome with JATD JBTS with JATD SCTID:733418003 UMLS:C4518774 MONDO:0018342