Orpha Number: 93317
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) |
| Abnormality of the scapula | Very frequent (present in 80%-99% of cases) |
| Atrioventricular block | Very frequent (present in 80%-99% of cases) |
| Cardiorespiratory arrest | Very frequent (present in 80%-99% of cases) |
| Delayed skeletal maturation | Very frequent (present in 80%-99% of cases) |
| Iliac crest serration | Very frequent (present in 80%-99% of cases) |
| Long fibula | Very frequent (present in 80%-99% of cases) |
| Metaphyseal chondrodysplasia | Very frequent (present in 80%-99% of cases) |
| Platyspondyly | Very frequent (present in 80%-99% of cases) |
| Rhizomelic arm shortening | Very frequent (present in 80%-99% of cases) |
| Short metacarpal | Very frequent (present in 80%-99% of cases) |
| Short palm | Very frequent (present in 80%-99% of cases) |
| Spondylometaphyseal dysplasia | Very frequent (present in 80%-99% of cases) |
| Cerebellar hypoplasia | Frequent (present in 30%-79% of cases) |
| Generalized |
Frequent (present in 30%-79% of cases) |
| Narrow chest | Frequent (present in 30%-79% of cases) |
| Turricephaly | Frequent (present in 30%-79% of cases) |
| Accelerated skeletal maturation | Occasional (present in 5%-29% of cases) |
| Agenesis of |
Occasional (present in 5%-29% of cases) |
| Cone-shaped epiphysis | Occasional (present in 5%-29% of cases) |
| Myocarditis | Occasional (present in 5%-29% of cases) |
| Pachygyria | Occasional (present in 5%-29% of cases) |
| 11 pairs of ribs | - |
| Arrhythmia | - |
| Atrial septal defect | - |
| - | |
| - | |
| Cone-shaped epiphyses of the phalanges of the hand | - |
| Cone-shaped metacarpal epiphyses | - |
| Cupped ribs | - |
| Delayed epiphyseal ossification | - |
| Flared iliac wings | - |
| Flat acetabular roof | - |
| Focal lissencephaly | - |
| Irregular tarsal bones | - |
| Large posterior fontanelle | - |
| Metaphyseal cupping | - |
| Metaphyseal irregularity | - |
| Muscular hypotonia | - |
| Narrow greater sacrosciatic notches | - |
| Porencephaly | - |
| Posteriorly rotated ears | - |
| Redundant skin | - |
| Rhizomelia | - |
| Short finger | - |
| Short long bone | - |
| Short neck | - |
| Short phalanx of finger | - |
| Short ribs | - |
| Short toe | - |
| Talipes equinovarus | - |
| 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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
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
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