GTR Home > Conditions/Phenotypes > Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Synonyms
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PROGRESSIVE, WITH SHORT STATURE, FACIAL DYSMORPHISM, SHORT FOURTH METATARSALS, AND MENTAL RETARDATION, WITH OR WITHOUT CRANIOSYNOSTOSIS; Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. [from SNOMEDCT_US]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SEMDFA, RSPRY1
    Summary: ring finger and SPRY domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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