Rare Endocrinology News

Disease Profile

Spondyloepimetaphyseal dysplasia Sponastrime type

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

Neonatal

ICD-10

Q77.7

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)

Spondylar and nasal alterations with striated metaphyses; Sponastrime dysplasia; Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation

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: 93357

Definition
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.

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 Spondyloepimetaphyseal dysplasia Sponastrime type. Click on the link to view a sample search on this topic.

Rare Endocrinology News

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
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
Frontal bossing
0002007
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Malar flattening
Zygomatic flattening
0000272
Mesomelia
Disproportionately short middle portion of limb
0003027
Osteoporosis
0000939
Platyspondyly
Flattened vertebrae
0000926
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Spondyloepimetaphyseal dysplasia
0002651
30%-79% of people have these symptoms
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hip dysplasia
0001385
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphosis
Hunched back
Round back

[ more ]

0002808
Muscular hypotonia
Low or weak muscle tone
0001252
Scoliosis
0002650
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Decreased circulating antibody level
0004313
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
1%-4% of people have these symptoms
Arnold-Chiari malformation
0002308
Congenital hypothyroidism
Underactive thyroid gland from birth
0000851
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Autosomal recessive inheritance
0000007
Biconcave vertebral bodies
0004586
Bulbous nose
0000414
Coxa vara
0002812
Decreased circulating IgG level
0004315
Delayed ossification of carpal bones
0001216
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Flat capital femoral epiphysis
Flat end part of innermost thighbone
0003370
Genu valgum
Knock knees
0002857
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation

[ more ]

0006887
Kyphoscoliosis
0002751
Laryngotracheomalacia
0008755
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension

[ more ]

0001377
Lumbar interpedicular narrowing
0008486
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Metaphyseal striations
0031367
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Osteopenia
0000938
Posterior subcapsular cataract
0007787
Relative macrocephaly
Relatively large head
0004482
Short dental roots
Decreased length of dental roots
Decreased length of tooth roots
Short tooth roots
Underdeveloped dental roots

[ more ]

0006336
Subglottic stenosis
0001607
Thoracic kyphosis
0002942