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  3. Geleophysic dwarfism
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Geleophysic dwarfism


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Other Names:
Geleophysic dysplasia
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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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 repeats- like 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.
Last updated: 6/1/2012

Symptoms Symptoms


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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.

Showing of 36 |
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
Showing of 36 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Geleophysic dwarfism. This website is maintained by the National Library of Medicine.

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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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