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  3. Achondrogenesis type 1B
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Achondrogenesis type 1B


Title


Other Names:
Achondrogenesis Fraccaro type; Fraccaro achondrogenesis; ACG1B
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.[1]  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. [2] Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.[1]
Last updated: 10/18/2013

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 38 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal enchondral ossification 0003336
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
0006703
Disproportionate short stature 0003498
Flat face
Flat facial shape
0012368
Frontal bossing 0002007
Hydrops fetalis 0001789
Lethal skeletal dysplasia
Lethal dwarfism identifiable at birth
0005716
Long philtrum 0000343
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Micromelia 0002983
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
0003510
Short foot
Short feet
Small feet
[ more ]
0001773
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Short thorax 0010306
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
0000474
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Femoral hernia 0100541
Polyhydramnios 0001561
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Umbilical hernia 0001537
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Cystic hygroma 0000476
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
0003270
Absent or minimally ossified vertebral bodies 0004599
Autosomal recessive inheritance 0000007
Breech presentation 0001623
Edema
Fluid retention
Water retention
[ more ]
0000969
Hypoplastic ilia 0000946
Inguinal hernia 0000023
Malar flattening
Zygomatic flattening
0000272
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
Respiratory insufficiency
Respiratory impairment
0002093
Short ribs 0000773
Stillbirth
Stillborn
0003826
Showing of 38 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 4/1/2018
Do you have updated information on this disease? We want to hear from you.

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 Genetics Home Reference.

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 Achondrogenesis type 1B. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

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.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Achondrogenesis type 1B. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • National DNA Day Reddit "Ask Me Anything" (AMA) Series
    April 11, 2018

Related Diseases Related Diseases


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The following diseases are related to Achondrogenesis type 1B. If you have a question about any of these diseases, you can contact GARD.

  • Achondrogenesis

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.

References References


  1. Achondrogenesis. Genetics Home Reference. February, 2008; http://ghr.nlm.nih.gov/condition/achondrogenesis. Accessed 10/25/2010.
  2. Faivre L. and Cormier-Daire V.. Achondrogenesis. Orphanet. May, 2003; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=932. Accessed 10/24/2010.
Do you know of a review article? We want to hear from you.
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You can help advance rare disease research!
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