Conditions / Genetic
spondyloepimetaphyseal dysplasia, Genevieve-type
info · Genetic
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and h
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
Signs and symptoms
- Short stature
- Cerebral atrophy
- Epicanthus
- Carpal bone hypoplasia
- Hypotonia
- Ataxia
- Generalized hypotonia
- Coarse facial features
- Nystagmus
- Prominent forehead