SED congenita [DS:H00519] Pseudoachondroplastic SED [DS:H00477] SED tarda [DS:H00760] Progressive pseudorheumatoid dysplasia [DS:H00758] SED with congenital joint dislocations [DS:H00762] SED Kimberley type [DS:H00765] Roifman syndrome [DS:H01575] SED Maroteaux type [DS:H02186] SED Kondo-Fu type (SEDKF) SED Nishimura type (SEDN) SED Holling type (SEDH)
Description
Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita, pseudoachondroplasia, and SED tarda.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02462 Spondyloepiphyseal dysplasia
Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM
Title
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
