Spondyloepimetaphyseal dysplasia, Camera-Genevieve type

O que é Spondyloepimetaphyseal dysplasia, Camera-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

Quais mudanças genéticas causam Spondyloepimetaphyseal dysplasia, Camera-Genevieve type?

Mutations in the NANS gene are responsible for the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

Quais são os principais sintomas de Spondyloepimetaphyseal dysplasia, Camera-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

Como alguém faz o teste de Spondyloepimetaphyseal dysplasia, Camera-Genevieve type?

The initial testing for Spondyloepimetaphyseal dysplasia, Camera-Genevieve type can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Informações médicas sobre Spondyloepimetaphyseal dysplasia, Camera-Genevieve type

Two Pakistani sisters, born to first cousin parents had a spondyloepimetaphyseal dysplasia and mental retardation (Genevieve et al., 2005). Hypotonia, nystagmus and poor vision were noted in the neonatal period in patient 1, and later, development was noted to be delayed. At 8 years she was ataxic, without speech and small. Her face was coarse, she had low anterior and posterior hairlines and her ears were flat and simple. She had synophris and she was hairy over her back and her legs. Her nose was broad, her neck short and when seen again at 11 years the coarsening of the facial features was even more marked. Her sister was similar, but in addition had abnormal pigmentation, along with the Blaschkoid lines. All biochemical tests were negative. An ERG in patient 1 detected an abnormal macular signal, but normal peripheral retina. Skeletal X-rays showed flat vertebral bodies, irregular vertebral plates and posterior scalloping. Metaphyses (with vertical striations) were flared and epiphyses small. Carpal bones were small, the acetabular roofs were flat and the femoral necks were short. Dymeclin, the gene responsible for Dyggve-Melchior-Clausen was normal as was PAPSS2, the gene responsible for SEMD - type Pakistani (see elsewhere).
Van Karnebeek et al. (2016) identified missense or truncating biallelic mutations in NANS in nine individuals from six families with infantile-onset severe developmental delay and skeletal dysplasia. The prenatal history was unremarkable in all patients except for one in whom prenatal hydrocephalus was diagnosed. Body measurements at birth were normal or slightly lower than normal. The main clinical features included shortening of both the trunk and limbs, muscle hypotonia and global developmental delay including moderate-to-severe intellectual disability. Only one patient acquired speech. Seizures were observed in some of the patients. Short stature was present in all adult patients with height ranging from 130 and 150 cm. Facial features included a prominent forehead, mild synophrys, a sunken nasal bridge, a prominent bulbous nasal tip, and full lips. Brain MRI showed perisylvian polymicrogyria, small basal ganglia, and reduced white matter mass in one patient and cerebral atrophy with nonspecific changes in white matter in four other patients. Skeletal X-rays demonstrated premature carpal ossification, platyspondyly, vertebral coronal clefts in childhood, longitudinal metaphyseal striations, irregularity and metaphyseal flaring, short femoral neck and small epiphyses. Patient body fluids showed an elevation in N-acetyl-D-mannosamine levels, and patient-derived fibroblasts had reduced NANS activity and were unable to incorporate sialic acid precursors into sialylated glycoproteins. NANS gene encodes the synthase for N-acetylneuraminic acid (NeuNAc; sialic acid).

* This information is courtesy of the L M D.
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