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Disease Profile

Platyspondylic lethal skeletal dysplasia Torrance 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.

Unknown

Age of onset

Infancy

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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.

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)

PLSDT; Lethal short-limbed platyspondylic dwarfism Torrance type; Thanatophoric dysplasia torrance variant

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: 85166

Definition
Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

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
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Abnormality of the carpal bones
0001191
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part

[ more ]

0003090
Hypoplastic pelvis
0008839
Metaphyseal cupping
0003021
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Platyspondyly
Flattened vertebrae
0000926
Short distal phalanx of finger
Short outermost finger bone
0009882
Short foot
Short feet
Small feet

[ more ]

0001773
Short palm
0004279
Short thorax
Shorter than typical length between neck and abdomen
0010306
Skeletal dysplasia
0002652
30%-79% of people have these symptoms
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
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Hydrops fetalis
0001789
Hypoplastic scapulae
Small shoulder blade
0000882
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Polyhydramnios
High levels of amniotic fluid
0001561
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
5%-29% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Percent of people who have these symptoms is not available through HPO
Abnormality of the abdominal wall
0004298
Autosomal dominant inheritance
0000006
Coarse facial features
Coarse facial appearance
0000280
Decreased cranial base ossification
0005451
Disc-like vertebral bodies
0004591
Flat acetabular roof
0003180
Hypoplastic ilia
0000946
Hypoplastic ischia
0003175
Hypoplastic pubic bone
0003173
Lethal skeletal dysplasia
Lethal dwarfism identifiable at birth
0005716
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Neonatal short-limb short stature
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth

[ more ]

0008921
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Severe limb shortening
0200083
Severe platyspondyly
0004565
Short long bone
Long bone shortening
0003026
Short neck
Decreased length of neck
0000470
Short ribs
0000773
Thin ribs
Slender ribs
0000883

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Platyspondylic lethal skeletal dysplasia Torrance type. Click on the link to view a sample search on this topic.