Spondylometaphyseal dysplasia with cone-rod dystrophy | |
---|---|
Other names | SMD-CRD (abbr.) [1] |
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Specialty | Medical genetics |
Symptoms | Affecting osseos system of the body |
Complications | Vision impairment |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Medium |
Frequency | rare, about 18 cases have been described in medical literature |
Deaths | - |
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia (which consists of platyspondyly, tubular bone shortening, and progressive cupping of the metaphyses), neonatal growth delays, and cone-rod dystrophy-associated progressive vision loss. [2] [3] Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date. [4] This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3. [5] [6] [7]
Other symptoms include rib anomalies, astigmatism, abnormalities in color vision, severe hyperopia/ myopia, hyperlordosis, nyctalopia, nystagmus, scoliosis, and photophobia. [8]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
Spondylometaphyseal dysplasia with cone-rod dystrophy | |
---|---|
Other names | SMD-CRD (abbr.) [1] |
![]() | |
Specialty | Medical genetics |
Symptoms | Affecting osseos system of the body |
Complications | Vision impairment |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Medium |
Frequency | rare, about 18 cases have been described in medical literature |
Deaths | - |
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia (which consists of platyspondyly, tubular bone shortening, and progressive cupping of the metaphyses), neonatal growth delays, and cone-rod dystrophy-associated progressive vision loss. [2] [3] Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date. [4] This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3. [5] [6] [7]
Other symptoms include rib anomalies, astigmatism, abnormalities in color vision, severe hyperopia/ myopia, hyperlordosis, nyctalopia, nystagmus, scoliosis, and photophobia. [8]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)