The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal enchondral ossification | Very frequent (present in 80%-99% of cases) |
| Anteverted nares | Very frequent (present in 80%-99% of cases) |
| Aplasia/Hypoplasia of the lungs | Very frequent (present in 80%-99% of cases) |
| Disproportionate short stature | Very frequent (present in 80%-99% of cases) |
| Flat face | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Very frequent (present in 80%-99% of cases) |
| Hydrops fetalis | Very frequent (present in 80%-99% of cases) |
| Lethal skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Long philtrum | Very frequent (present in 80%-99% of cases) |
| Macrocephaly | Very frequent (present in 80%-99% of cases) |
| Micrognathia | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Narrow chest | Very frequent (present in 80%-99% of cases) |
| Severe short stature | Very frequent (present in 80%-99% of cases) |
| Short foot | Very frequent (present in 80%-99% of cases) |
| Short neck | Very frequent (present in 80%-99% of cases) |
| Short nose | Very frequent (present in 80%-99% of cases) |
| Short thorax | Very frequent (present in 80%-99% of cases) |
| Thickened nuchal skin fold | Very frequent (present in 80%-99% of cases) |
| Abnormality of the ribs | Frequent (present in 30%-79% of cases) |
| Femoral hernia | Frequent (present in 30%-79% of cases) |
| Polyhydramnios | Frequent (present in 30%-79% of cases) |
| Talipes equinovarus | Frequent (present in 30%-79% of cases) |
| Umbilical hernia | Frequent (present in 30%-79% of cases) |
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Cystic hygroma | Occasional (present in 5%-29% of cases) |
| Abdominal distention | - |
| Absent or minimally ossified vertebral bodies | - |
| Autosomal recessive inheritance | - |
| Breech presentation | - |
| Edema | - |
| Hypoplastic ilia | - |
| Inguinal hernia | - |
| Malar flattening | - |
| Neonatal short-limb short stature | - |
| Respiratory insufficiency | - |
| Short ribs | - |
| Stillbirth | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location:
New London,
NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
The following diseases are related to Achondrogenesis type 1B. If you have a question about any of these diseases, you can contact GARD.
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.
