Rare Ophthalmology News

Disease Profile

Cartilage-hair hypoplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q78.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases;

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]

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.

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 ]

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.

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.

      References

      1. Cartilage-hair hypoplasia. Genetics Home Reference. November 2008; https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia. Accessed 6/22/2011.

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