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Disease Profile

Spondylometaphyseal dysplasia with cone-rod dystrophy

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

No data available

ICD-10

Q77.8

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)

SMD-CRD

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 85167

Definition
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal 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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Cone/cone-rod dystrophy
0000548
Decreased hip abduction
0003184
Iris hypopigmentation
Light eye color
0007730
Metaphyseal cupping
0003021
Platyspondyly
Flattened vertebrae
0000926
Rhizomelia
Disproportionately short upper portion of limb
0008905
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Spondylometaphyseal dysplasia
0002657
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Color vision defect
Abnormal color vision
Abnormality of color vision

[ more ]

0000551
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
Hyperlordosis
Prominent swayback
0003307
Large central visual field defect
Large central loss of field of vision
0001129
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Peripheral visual field loss
Loss of peripheral vision
0007994
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Scoliosis
0002650
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
5%-29% of people have these symptoms
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion

[ more ]

0002996
Short palm
0004279
Percent of people who have these symptoms is not available through HPO
Abnormality of macular pigmentation
0008002
Autosomal recessive inheritance
0000007
Brachydactyly
Short fingers or toes
0001156
Coxa vara
0002812
Cupped ribs
Rib cupping
0000887
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Femoral bowing
Bowed thighbone
0002980
Hypoplastic inferior ilia
0008821
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Metaphyseal widening
Broad wide portion of long bone
0003016
Narrow greater sciatic notch
0003375
Ovoid vertebral bodies
0003300
Postnatal growth retardation
Growth delay as children
0008897
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Recurrent otitis media
Recurrent middle ear infection
0000403
Severe platyspondyly
0004565
Short finger
Stubby finger
0009381
Short metacarpal
Shortened long bone of hand
0010049
Tibial bowing
Bowed shankbone
Bowed shinbone

[ more ]

0002982

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 Spondylometaphyseal dysplasia with cone-rod dystrophy. Click on the link to view a sample search on this topic.