Clinical Guidance
MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) is characterized by postnatal-onset short stature, pectus deformity, kyphosis and/or scoliosis, hernia, protruding abdomen, cataract(s), developmental delay, and dysmorphic facial features, in combination with elevated lysosomal hydrolase enzyme levels in plasma. Additional features can include waddling or staggering gait, craniosynostosis, and seizures. To date six individuals with MBTPS1-SEMD from six families have been reported [, , , , , ]. Three additional affected individuals are known to the authors. The features in and the following description are based on published reports. Table 2. MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes: Frequency of Select Features
Feature | Proportion of Persons w/Feature | Comments |
|---|
Short stature | 6/6 | — |
Chest deformity | 6/6 | Pectus carinatum, pectus excavatum |
Kyphosis /or scoliosis | 5/6 | — |
Hernia/ protruding abdomen | 6/6 | — |
Cataract | 5/6 | — |
Developmental delay | 5/6 | Incl gross motor speech delays Dysmorphic facies |
Prominent forehead | 5/6 | — |
Prominent cheek bones | 5/6 | — |
Retromicrognathia | 6/6 | — |
Wide mouth | 5/6 | — |
Large ears | 6/6 | Growth deficiency. Postnatal-onset short stature was present in all reported individuals and was typically identified by age three years. Two individuals were treated with growth hormone therapy. |
Source: GeneReviews — "MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes"
