Rare Neurology News

Advertisement

Disease Profile

Keutel syndrome

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.

<1 >

US Estimated

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

Q87.8

Inheritance

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

no.svg

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.

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Pulmonic stenosis brachytelephalangism and calcification of cartilages

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

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]

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
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
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
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
Pulmonary obstruction
Obstructive lung disease
0006536
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

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.

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.

References

  1. Keutel syndrome. Orphanet. 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85202. Accessed 4/29/2011.