Rare Nephrology News

Disease Profile

Leukoencephalopathy-spondylometaphyseal dysplasia syndrome

Prevalence
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.

Unknown

Age of onset

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

H-SMD; Hypomyelination-spondylometaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome;

Categories

Congenital and Genetic Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 83629

Definition
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.

Visit the Orphanet disease page for more resources.

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.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leukoencephalopathy-spondylometaphyseal dysplasia syndrome. Click on the link to view a sample search on this topic.

Rare Nephrology News

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 MRI signal intensity
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 corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Intellectual disability
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 nystagmus
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
Brachydactyly
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 CNS myelination
0002188
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Flared iliac wings
0002869
Flexion contracture
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
Seizure
0001250
Short femoral neck
Short neck of thighbone
0100864
Short finger
Stubby finger
0009381
Short neck
Decreased length of neck
0000470
Short stature
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