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Disease Profile
Leukoencephalopathy-spondylometaphyseal dysplasia syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
H-SMD; Hypomyelination-spondylometaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome;
Categories
Congenital and Genetic Diseases
Summary
Orpha Number: 83629
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Leukoencephalopathy | 0002352 | |
Metaphyseal chondrodysplasia | 0005871 | |
30%-79% of people have these symptoms | ||
Abnormal astrocyte morphology | 0100707 | |
Abnormal brainstem |
0012747 | |
Abnormality of the optic nerve |
Optic nerve issue
|
0000587 |
Babinski sign | 0003487 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Enlargement of the wrists | 0003020 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Large knee | 0030866 | |
Morphological abnormality of the pyramidal tract | 0002062 | |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Spastic paraplegia | 0001258 | |
Toe walking |
Toe-walking
|
0040083 |
Tremor | 0001337 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
5%-29% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Horizontal |
0000666 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior rib cupping | 0000907 | |
Short fingers or toes
|
0001156 | |
Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Cone-shaped capital femoral epiphysis |
Cone-shaped end part of innermost thighbone
|
0008789 |
Coxa vara | 0002812 | |
Delayed |
0002188 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Flared iliac wings | 0002869 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the odontoid process | 0003311 | |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Metaphyseal cupping of metacarpals |
Cupping of wide portion of long bone of hand
|
0006028 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Optic disc pallor | 0000543 | |
Peg-like central prominence of distal tibial metaphyses | 0006423 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Prominent sternum | 0000884 | |
0001250 | ||
Short femoral neck |
Short neck of thighbone
|
0100864 |
Short finger |
Stubby finger
|
0009381 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Small epiphyses |
Small end part of bone
|
0010585 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thin ribs |
Slender ribs
|
0000883 |
Thoracic kyphosis | 0002942 | |
Widened subarachnoid space | 0012704 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |