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Disease Profile

Geleophysic dwarfism

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

Childhood

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ICD-10

Q87.1

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)

Geleophysic dysplasia

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: 2623

Definition
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').

Epidemiology
Fewer than 30 cases have been reported to date.

Clinical description
The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon leading to tip toe walking, tracheal stenosis, bronchopulmonary insufficiency, and liver enlargement. Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.

Etiology
Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling. FBN1 encodes fibrillin-1 and ADAMTSL2 (Disintegrin And Metalloproteinase with Thrombospondin repeatslike 2) encodes a glycoprotein of unknown function.

Genetic counseling
Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations.

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
Percent of people who have these symptoms is not available through HPO
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aortic valve stenosis
Narrowing of aortic valve
0001650
Autosomal recessive inheritance
0000007
Camptodactyly of finger
Permanent flexion of the finger
0100490
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Coxa valga
0002673
Global developmental delay
0001263
Hepatomegaly
Enlarged liver
0002240
High pitched voice
0001620
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part

[ more ]

0003090
Irregular capital femoral epiphysis
Irregular end part of innermost thighbone
0005041
Joint contracture of the hand
0009473
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
J-shaped sella turcica
0002680
Lack of skin elasticity
0100679
Long philtrum
0000343
Mitral stenosis
0001718
Osteopenia
0000938
Pectus excavatum
Funnel chest
0000767
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Seizure
0001250
Short foot
Short feet
Small feet

[ more ]

0001773
Short long bone
Long bone shortening
0003026
Short metacarpals with rounded proximal ends
Short long bone of hand with rounded innermost ends
0006161
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short palm
0004279
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small nail
Small nails
0001792
Smooth philtrum
0000319
Thickened helices
0000391
Thickened skin
Thick skin
0001072
Tracheal stenosis
Narrowing of windpipe
0002777
Tricuspid stenosis
0010446
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
Wrist flexion contracture
0001239

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.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Geleophysic dwarfism. Click on the link to view a sample search on this topic.