Spondyloepimetaphyseal Dysplasia, Di Rocco Type (SEMDDR)

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OMIM 57 617974 MedGen 42 CN244923

MeSH 44 D010009 SNOMED-CT via HPO 69 271706000 57676002 299331007 27837003 more

UniProtKB/Swiss-Prot : ⁷⁵ 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 arthralgia and platyspondyly

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)

Clinical features from OMIM:

617974

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