Orpha Number: 1318
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 the ribs | Very frequent (present in 80%-99% of cases) |
| Bowing of the long bones | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Clubbing of toes | Very frequent (present in 80%-99% of cases) |
| Cystic hygroma | Very frequent (present in 80%-99% of cases) |
| Death in infancy | Very frequent (present in 80%-99% of cases) |
| Dolichocephaly | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Multicystic kidney dysplasia | Very frequent (present in 80%-99% of cases) |
| Multiple renal cysts | Very frequent (present in 80%-99% of cases) |
| Oligohydramnios | Very frequent (present in 80%-99% of cases) |
| Pancreatic cysts | Very frequent (present in 80%-99% of cases) |
| Prematurely aged appearance | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Abnormal vertebral ossification | Frequent (present in 30%-79% of cases) |
| Hepatomegaly | Frequent (present in 30%-79% of cases) |
| Hydrops fetalis | Frequent (present in 30%-79% of cases) |
| Myelodysplasia | Frequent (present in 30%-79% of cases) |
| Skin dimples | Frequent (present in 30%-79% of cases) |
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Abnormality of the intestine | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia affecting the eye | Occasional (present in 5%-29% of cases) |
| Coarse facial features | Occasional (present in 5%-29% of cases) |
| Lymphedema | Occasional (present in 5%-29% of cases) |
| - | |
| Polycystic kidney dysplasia | - |
| Polycystic liver disease | - |
| Polysplenia | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
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.
