Achondrogenesis type 1B

Title

Other Names:

Achondrogenesis Fraccaro type; Fraccaro achondrogenesis; ACG1B

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

This disease is grouped under:

Achondrogenesis

Summary Summary

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

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.

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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

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Last updated: 7/2/2018

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Find a Specialist Find a Specialist

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

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.

GARD Answers GARD Answers

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

Achondrogenesis. Genetics Home Reference. February, 2008; http://ghr.nlm.nih.gov/condition/achondrogenesis. Accessed 10/25/2010.
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.

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