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) |
| Abnormality of bone mineral density | 90% |
| Anteverted nares | 90% |
| Aplasia/Hypoplasia of the lungs | 90% |
| Brachydactyly syndrome | 90% |
| Frontal bossing | 90% |
| Hydrops fetalis | 90% |
| Long philtrum | 90% |
| Macrocephaly | 90% |
| Malar flattening | 90% |
| Micromelia | 90% |
| Narrow chest | 90% |
| Short neck | 90% |
| Short nose | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Short toe | 90% |
| Skeletal dysplasia | 90% |
| Thickened nuchal skin fold | 90% |
| Abnormality of the ribs | 50% |
| Polyhydramnios | 50% |
| Talipes | 50% |
| Umbilical hernia | 50% |
| Cystic hygroma | 7.5% |
| Abdominal distention | - |
| Absent or minimally ossified vertebral bodies | - |
| Autosomal recessive inheritance | - |
| Breech presentation | - |
| Edema | - |
| Flat face | - |
| Hypoplastic ilia | - |
| Inguinal hernia | - |
| 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.
