skin disorder Ehlers-Danlos syndrome, spondylodysplastic type https://github.com/monarch-initiative/mondo/issues/10121 https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/ehlers_danlos_syndrome_spondylodysplastic_type_1 https://www.malacards.org/card/ehlers_danlos_syndrome_spondylodysplastic_type_2 https://www.malacards.org/card/spondylodysplastic_ehlers_danlos_syndrome Ehlers-Danlos syndrome, progeroid type (former) UMLS:C5680154 spondylodysplastic Ehlers-Danlos syndrome A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later-onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. MEDGEN:1814455 spondylodysplastic EDS Orphanet:536471 SCTID:720861000 GARD:0009991 spEDS DOID:0050802 MONDO:0007526 obsolete primary bone dysplasia with decreased bone density Ehlers-Danlos syndrome linkeropathy