Spondyloepimetaphyseal Dysplasia, Di Rocco Type (SEMDDR)

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OMIM® 57 617974 MeSH 44 D010009

MedGen 41 C4693799 CN244923 SNOMED-CT via HPO 68 237836003 263681008 271706000 27837003 299331007 57676002 more

UniProtKB/Swiss-Prot : ⁷² Spondyloepimetaphyseal dysplasia, Di Rocco type: A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Di Rocco Type, is also known as semddr. An important gene associated with Spondyloepimetaphyseal Dysplasia, Di Rocco Type is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone, and related phenotypes are short stature and waddling gait

OMIM® : ⁵⁷ Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018). (617974) (Updated 20-May-2021)

Clinical features from OMIM®:

617974 (Updated 20-May-2021)

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