Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG)

What is Spondyloepimetaphyseal dysplasia, Genevieve type?

It 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 Spondyloepimetaphyseal dysplasia, Genevieve type 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.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more