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 vertebral ossification | Very frequent (present in 80%-99% of cases) |
| Abnormality of epiphysis morphology | Very frequent (present in 80%-99% of cases) |
| Abnormality of retinal pigmentation | Very frequent (present in 80%-99% of cases) |
| Abnormality of the cardiac septa | Very frequent (present in 80%-99% of cases) |
| Abnormality of the distal phalanx of finger | Very frequent (present in 80%-99% of cases) |
| Abnormality of the pancreas | Very frequent (present in 80%-99% of cases) |
| Biconvex vertebral bodies | Very frequent (present in 80%-99% of cases) |
| Blue sclerae | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Convex nasal ridge | Very frequent (present in 80%-99% of cases) |
| Diaphyseal thickening | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| High-grade hypermetropia | Very frequent (present in 80%-99% of cases) |
| Hyperlordosis | Very frequent (present in 80%-99% of cases) |
| Hypocalcemia | Very frequent (present in 80%-99% of cases) |
| Large face | Very frequent (present in 80%-99% of cases) |
| Limited elbow extension | Very frequent (present in 80%-99% of cases) |
| Mesomelia | Very frequent (present in 80%-99% of cases) |
| Metaphyseal chondrodysplasia | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Neutropenia | Very frequent (present in 80%-99% of cases) |
| Respiratory insufficiency | Very frequent (present in 80%-99% of cases) |
| Rhizomelia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Short neck | Very frequent (present in 80%-99% of cases) |
| Short palm | Very frequent (present in 80%-99% of cases) |
| Sparse and thin eyebrow | Very frequent (present in 80%-99% of cases) |
| Sparse hair | Very frequent (present in 80%-99% of cases) |
| Spinal dysraphism | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Tibial bowing | Very frequent (present in 80%-99% of cases) |
| Tracheal stenosis | Very frequent (present in 80%-99% of cases) |
| Visual impairment | Very frequent (present in 80%-99% of cases) |
| Abnormality of the hip bone | Frequent (present in 30%-79% of cases) |
| Abnormality of the palate | Frequent (present in 30%-79% of cases) |
| Flaring of lower rib cage | Frequent (present in 30%-79% of cases) |
| Gingival overgrowth | Frequent (present in 30%-79% of cases) |
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Malabsorption | Frequent (present in 30%-79% of cases) |
| Mucopolysacchariduria | Frequent (present in 30%-79% of cases) |
| Myopia | Frequent (present in 30%-79% of cases) |
| Narrow chest | Frequent (present in 30%-79% of cases) |
| Prominent forehead | Frequent (present in 30%-79% of cases) |
| Abnormality of |
Occasional (present in 5%-29% of cases) |
| Accelerated skeletal maturation | Occasional (present in 5%-29% of cases) |
| Aganglionic megacolon | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Anteverted nares | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia affecting the eye | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the abdominal wall musculature | Occasional (present in 5%-29% of cases) |
| Brachycephaly | Occasional (present in 5%-29% of cases) |
| Cognitive impairment | Occasional (present in 5%-29% of cases) |
| Decreased |
Occasional (present in 5%-29% of cases) |
| Delayed skeletal maturation | Occasional (present in 5%-29% of cases) |
| Depressed nasal ridge | Occasional (present in 5%-29% of cases) |
| Epicanthus | Occasional (present in 5%-29% of cases) |
| Heart block | Occasional (present in 5%-29% of cases) |
| Hepatomegaly | Occasional (present in 5%-29% of cases) |
| Joint hyperflexibility | Occasional (present in 5%-29% of cases) |
| Lymphoma | Occasional (present in 5%-29% of cases) |
| Macrotia | Occasional (present in 5%-29% of cases) |
| Pectus carinatum | Occasional (present in 5%-29% of cases) |
| Sacral dimple | Occasional (present in 5%-29% of cases) |
| Short thorax | Occasional (present in 5%-29% of cases) |
| Small hand | Occasional (present in 5%-29% of cases) |
| Wide nasal bridge | Occasional (present in 5%-29% of cases) |
| Abnormality of |
- |
| - | |
| Cellular |
- |
| - | |
| Esophageal atresia | - |
| Fair hair | - |
| Fine hair | - |
| Impaired |
- |
| Joint hypermobility | - |
| Lumbar hyperlordosis | - |
| Lymphopenia | - |
| Macrocytic anemia | - |
| Metaphyseal cupping | - |
| Metaphyseal dysplasia | - |
| Metaphyseal widening | - |
| Narrow vertebral interpedicular distance | - |
| Neonatal short-limb |
- |
| - | |
| Sparse eyelashes | - |
| Sparse facial hair | - |
| - |
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.
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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
The following diseases are related to Cartilage-hair hypoplasia. If you have a question about any of these diseases, you can contact GARD.
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