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) |
| Brachydactyly syndrome | 90% |
| Delayed skeletal maturation | 90% |
| Platyspondyly | 90% |
| Sprengel anomaly | 90% |
| Sudden cardiac death | 90% |
| Narrow chest | 50% |
| Accelerated skeletal maturation | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| 11 pairs of ribs | - |
| Atria septal defect | - |
| Autosomal recessive inheritance | - |
| Cone-shaped epiphyses of the phalanges of the hand | - |
| Cone-shaped metacarpal epiphyses | - |
| Cupped ribs | - |
| Delayed epiphyseal ossification | - |
| Depressed nasal bridge | - |
| Flared iliac wings | - |
| Flat acetabular roof | - |
| Focal lissencephaly | - |
| Iliac crest serration | - |
| Irregular tarsal bones | - |
| Large posterior fontanelle | - |
| Long fibula | - |
| Metaphyseal cupping | - |
| Metaphyseal irregularity | - |
| Muscular hypotonia | - |
| Narrow greater sacrosciatic notches | - |
| Porencephaly | - |
| Posteriorly rotated ears | - |
| Redundant skin | - |
| Rhizomelia | - |
| Short finger | - |
| Short long bone | - |
| Short metacarpal | - |
| Short neck | - |
| Short phalanx of finger | - |
| Short ribs | - |
| Short toe | - |
| Spondylometaphyseal dysplasia | - |
| Talipes equinovarus | - |
| Turricephaly | - |
| Widened sacrosciatic notch | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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