Keutel syndrome

Title

Other Names:

Pulmonic stenosis brachytelephalangism and calcification of cartilages

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary

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

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
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		0000430
Ventricular septal defect		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
Epiphyseal stippling	Speckled calcifications in end part of bone	0010655
Growth abnormality	Abnormal growth Growth issue [ more ]	0001507
Macrotia	Large ears	0000400
Malar flattening	Zygomatic flattening	0000272
Nasal speech	Nasal voice	0001611
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

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

Last updated: 10/1/2018

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

Diagnosis Diagnosis

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

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 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

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

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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