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 hair quantity | 90% |
| Abnormal vertebral ossification | 90% |
| Abnormality of bone mineral density | 90% |
| Abnormality of epiphysis morphology | 90% |
| Abnormality of retinal pigmentation | 90% |
| Abnormality of the cardiac septa | 90% |
| Abnormality of the distal phalanx of finger | 90% |
| Abnormality of the pancreas | 90% |
| Abnormality of the tibia | 90% |
| Blue sclerae | 90% |
| Bowing of the long bones | 90% |
| Brachydactyly syndrome | 90% |
| Convex nasal ridge | 90% |
| EEG abnormality | 90% |
| Hypermetropia | 90% |
| Hypertrophic cardiomyopathy | 90% |
| Hypocalcemia | 90% |
| Large face | 90% |
| Malar flattening | 90% |
| Micromelia | 90% |
| Multiple enchondromatosis | 90% |
| Muscular hypotonia | 90% |
| Respiratory insufficiency | 90% |
| Scoliosis | 90% |
| Short neck | 90% |
| Short stature | 90% |
| Spinal dysraphism | 90% |
| Strabismus | 90% |
| Tracheal stenosis | 90% |
| Visual impairment | 90% |
| Abnormality of the hip bone | 50% |
| Abnormality of the palate | 50% |
| Depressed nasal bridge | 50% |
| Frontal bossing | 50% |
| Gingival overgrowth | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Malabsorption | 50% |
| Mucopolysacchariduria | 50% |
| Myopia | 50% |
| Narrow chest | 50% |
| Wide nasal bridge | 50% |
| Abnormality of chromosome stability | 7.5% |
| Accelerated skeletal maturation | 7.5% |
| Aganglionic megacolon | 7.5% |
| Anteverted nares | 7.5% |
| Aplasia/Hypoplasia affecting the eye | 7.5% |
| Aplasia/Hypoplasia of the abdominal wall musculature | 7.5% |
| Arrhythmia | 7.5% |
| Brachycephaly | 7.5% |
| Cognitive impairment | 7.5% |
| Decreased antibody level in blood | 7.5% |
| Delayed skeletal maturation | 7.5% |
| Depressed nasal ridge | 7.5% |
| Epicanthus | 7.5% |
| Hepatomegaly | 7.5% |
| Joint hypermobility | 7.5% |
| Macrotia | 7.5% |
| Pectus carinatum | 7.5% |
| Sacral dimple | 7.5% |
| Short palm | 7.5% |
| Short thorax | 7.5% |
| Lymphoma | 5% |
| Abnormality of pelvic girdle bone morphology | - |
| Autosomal recessive inheritance | - |
| Cellular immunodeficiency | - |
| Congenital hypoplastic anemia | - |
| Esophageal atresia | - |
| Fair hair | - |
| Fine hair | - |
| Flaring of lower rib cage | - |
| Impaired lymphocyte transformation with phytohemagglutinin | - |
| Limited elbow extension | - |
| Lumbar hyperlordosis | - |
| Lymphopenia | - |
| Macrocytic anemia | - |
| Metaphyseal cupping | - |
| Metaphyseal dysplasia | - |
| Metaphyseal widening | - |
| Narrow vertebral interpedicular distance | - |
| Neonatal short-limb short stature | - |
| Neoplasm of the skin | - |
| Neutropenia | - |
| Sparse eyebrow | - |
| Sparse eyelashes | - |
| Sparse facial hair | - |
| Susceptibility to chickenpox | - |
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.
The following diseases are related to Cartilage-hair hypoplasia. If you have a question about any of these diseases, you can contact GARD.
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.
