Cartilage-hair hypoplasia

Title

Other Names:

Metaphyseal chondrodysplasia McKusick type; CHH; Cartilage hair hypoplasia like syndrome

Categories:

Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin Diseases See More

This disease is grouped under:

Ectodermal dysplasia; T cell immunodeficiency primary

Summary Summary

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. Gastrointestinal problems are also common. Cartilage-hair hypoplasia is caused by mutations in the RMRP gene and is inherited in an autosomal recessive fashion.^[1]

Last updated: 6/22/2011

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal cardiac septum morphology		0001671
Abnormal distal phalanx morphology of finger	Abnormality of the outermost finger bone	0009832
Abnormality of epiphysis morphology	Abnormal shape of end part of bone	0005930
Abnormality of retinal pigmentation		0007703
Abnormality of the pancreas		0001732
Abnormally ossified vertebrae	Abnormal bone maturation of vertebra	0100569
Biconvex vertebral bodies		0004625
Blue sclerae	Whites of eyes are a bluish-gray color	0000592
Cardiomyopathy	Disease of the heart muscle	0001638
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Diaphyseal thickening	Thickening of shaft or central part of long bones	0005019
EEG abnormality		0002353
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
High hypermetropia	Severe farsightedness Severe long-sightedness [ more ]	0008499
Hyperlordosis	Prominent swayback	0003307
Hypocalcemia	Low blood calcium levels	0002901
Large face	Big face	0100729
Limited elbow extension	Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ]	0001377
Mesomelia	Disproportionately short middle portion of limb	0003027
Metaphyseal chondrodysplasia		0005871
Micromelia	Smaller or shorter than typical limbs	0002983
Muscular hypotonia	Low or weak muscle tone	0001252
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Respiratory insufficiency	Respiratory impairment	0002093
Rhizomelia	Disproportionately short upper portion of limb	0008905
Scoliosis		0002650
Short neck	Decreased length of neck	0000470
Short palm		0004279
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Sparse hair		0008070
Spinal dysraphism		0010301
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Tibial bowing	Bowed shankbone Bowed shinbone [ more ]	0002982
Tracheal stenosis	Narrowing of windpipe	0002777
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
30%-79% of people have these symptoms
Abnormal palate morphology	Abnormality of the palate Abnormality of the roof of the mouth [ more ]	0000174
Abnormality of the hip bone	Abnormality of the hips	0003272
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Flaring of lower rib cage		0006589
Gingival overgrowth	Gum enlargement	0000212
Low-set, posteriorly rotated ears		0000368
Malabsorption	Intestinal malabsorption	0002024
Mucopolysacchariduria		0008155
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Narrow chest	Low chest circumference Narrow shoulders [ more ]	0000774
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Reduced tendon reflexes		0001315
5%-29% of people have these symptoms
Abnormality of chromosome stability		0003220
Accelerated skeletal maturation	Advanced bone age Early bone maturation [ more ]	0005616
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Anemia	Low number of red blood cells or hemoglobin	0001903
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Aplasia/Hypoplasia affecting the eye	Absent/small eye Absent/underdeveloped eye [ more ]	0008056
Aplasia/Hypoplasia of the abdominal wall musculature	Absent/small abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ]	0010318
Brachycephaly	Short and broad skull	0000248
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Decreased circulating antibody level		0004313
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Heart block		0012722
Hepatomegaly	Enlarged liver	0002240
Hypoplasia of the odontoid process		0003311
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Lymphoma	Cancer of lymphatic system	0002665
Macrotia	Large ears	0000400
Pectus carinatum	Pigeon chest	0000768
Sacral dimple	Spinal dimple	0000960
Short thorax	Shorter than typical length between neck and abdomen	0010306
Small hand	Disproportionately small hands	0200055
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Percent of people who have these symptoms is not available through HPO
Abnormality of pelvic girdle bone morphology	Abnormal shape of pelvic girdle bone	0002644
Absent pubertal growth spurt		0031087
Autosomal recessive inheritance		0000007
Cellular immunodeficiency		0005374
Congenital hypoplastic anemia		0004810
Esophageal atresia	Birth defect in which part of esophagus did not develop	0002032
Fair hair	Blond hair Fair hair color Flaxen hair color Light colored hair Sandy hair color Straw colored hair Towhead (hair color) [ more ]	0002286
Femoral bowing	Bowed thighbone	0002980
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Impaired lymphocyte transformation with phytohemagglutinin		0003347
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Lumbar hyperlordosis	Excessive inward curvature of lower spine	0002938
Lymphopenia	Decreased blood lymphocyte number Low lymphocyte number [ more ]	0001888
Macrocytic anemia		0001972
Metaphyseal cupping		0003021
Metaphyseal dysplasia		0100255
Metaphyseal widening	Broad wide portion of long bone	0003016
Narrow vertebral interpedicular distance		0008450
Neonatal short-limb short stature	Short limb dwarfism recognizable at birth Short-limb dwarfism identifiable at birth Short-limbed dwarfism identifiable at birth [ more ]	0008921
Neoplasm of the skin	Skin tumors Tumor of the skin [ more ]	0008069
Sparse eyelashes	Scant eyelashes Scanty eyelashes Thin eyelashes [ more ]	0000653
Sparse facial hair		0007464
Susceptibility to chickenpox		0005360

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include other forms of short-limb dwarfism. Visit the Orphanet disease page for more information.

Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Cartilage-hair hypoplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

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.

Organizations Supporting this Disease

Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: info@idfa.org.au
Website: http://www.idfa.org.au/
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: info@lpaonline.org
Website: https://www.lpaonline.org/
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: contactus@magicfoundation.org
Website: https://www.magicfoundation.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

Where to Start

Genetics Home Reference (GHR) contains information on Cartilage-hair hypoplasia. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cartilage-hair hypoplasia. Click on the link to view a sample search on this topic.

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