What is Spondyloepimetaphyseal dysplasia, Genevieve type?
Spondyloepimetaphyseal dysplasia, Genevieve type is a rare syndrome that presents with bone dysplasia and severe developmental delay.
This syndrome is also known as:
Semd, Genevieve Type SEMDG
What gene changes cause Spondyloepimetaphyseal dysplasia, Genevieve type?
Mutations in the NANS gene are responsible for the syndrome.
The syndrome is inherited in an autosomal recessive pattern.
What are the main symptoms of Spondyloepimetaphyseal dysplasia, Genevieve type?
The main symptoms of this rare syndrome include severe developmental delay and a number of symptoms associated with skeletal dysplasia. These symptoms include a short statue, premature bone ossification and a number of other related medical issues.
Unique facial features include facial dysmorphism, a prominent forehead, a depressed nasal bridge, a prominent nasal tip, and full lips. Platyspondyly (abnormal vertebrae) and abnormal epiphyseal and metaphyseal (observed in the extremes of the long bones) ossification stand for the spondyloepimetaphyseal in the name.
Possible clinical traits/features:
Small epiphyses, Microcephaly, Thick lower lip vermilion, Synophrys, Spondyloepimetaphyseal dysplasia, Coarse facial features, Epicanthus, Long fibula, Flared metaphysis, Metaphyseal irregularity, Flat acetabular roof, Abnormality of the skin, Hirsutism, Short femoral neck, Low anterior hairline, Low posterior hairline, Intellectual disability, Irregular epiphyses, Irregular vertebral endplates, Narrow iliac wings, Muscular hypotonia, Short neck, Posterior scalloping of vertebral bodies, Platyspondyly, Autosomal recessive inheritance, Nystagmus, Abnormality of the pinna, Brachycephaly, Carpal bone hypoplasia, Ataxia, Wide nose.
How is it diagnosed?
To find out if someone has a diagnosis of Spondyloepimetaphyseal dysplasia, Genevieve type, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
