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  3. Keutel syndrome
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Keutel syndrome


Title


Other Names:
Pulmonic stenosis brachytelephalangism and calcification of cartilages
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary


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Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the MGP gene.[1]
Last updated: 4/29/2011

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 48 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Calcification of cartilage 0100593
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
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
0000276
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Short distal phalanx of finger
Short outermost finger bone
0009882
Tracheal atresia 0100682
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
0000445
30%-79% of people have these symptoms
Global developmental delay 0001263
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinusitis 0011108
Sloping forehead
Inclined forehead
Receding forehead
[ more ]
0000340
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
5%-29% of people have these symptoms
Alopecia
Hair loss
0001596
Dermal atrophy
Skin degeneration
0004334
Optic atrophy 0000648
Seizures
Seizure
0001250
Short stature
Decreased body height
Small stature
[ more ]
0004322
Soft, doughy skin 0001027
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Calcification of the auricular cartilage 0005103
Cartilaginous ossification of larynx 0008747
Cartilaginous ossification of nose 0005275
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Chronic sinusitis 0011109
Costal cartilage calcification 0006646
Deep philtrum 0002002
Emphysema 0002097
Epiphyseal stippling
Speckled calcifications in end part of bone
0010655
Growth abnormality
Abnormal growth
Growth issue
[ more ]
0001507
Hypertension 0000822
Macrotia
Large ears
0000400
Malar flattening
Zygomatic flattening
0000272
Nasal speech
Nasal voice
0001611
Obstructive lung disease 0006536
Peripheral pulmonary artery stenosis
Narrowing of peripheral lung artery
0004969
Premature fusion of phalangeal epiphyses
Premature fusion of end part of digital bone
0006140
Pulmonary artery hypoplasia
Underdeveloped lung artery
0004971
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Recurrent bronchitis 0002837
Short hallux
Short big toe
0010109
Short thumb
Short thumbs
Small thumbs
[ more ]
0009778
Sinusitis
Sinus inflammation
0000246
Spontaneous abortion 0005268
Showing of 48 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 principle differential diagnosis is X-linked recessive chondrodysplasia punctata, but abnormal calcification has also been observed in children with warfarin embryopathy (see this term) and in those with combined vitamin K-dependent coagulation factor deficiency.
Visit the Orphanet disease page for more information.

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.

In-Depth Information

  • 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 Keutel syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

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. Keutel syndrome. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85202. Accessed 4/29/2011.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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