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Cartilage-hair hypoplasia


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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


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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


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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.

Showing of 94 |
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
Showing of 94 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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


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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


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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


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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


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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.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Cartilage-hair hypoplasia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia. Accessed 6/22/2011.
Do you know of a review article? We want to hear from you.
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