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- Keutel_syndrome abstract "Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein (MGP). Being an autosomal recessive disorder, it may be inherited from two unaffected, abnormal MGP-carrying parents. Thus, people who inherit two affected MGP genes will likely inherit KS. It was first identified in 1972 as a novel rare genetic disorder sharing similar symptoms with chondrodysplasia punctata. Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, and conductive deafness, yet peripheral pulmonary stenosis remains unique to KS.No chromosomal abnormalities are reported in affected individuals, suggesting that familial consanguinity relates to the autosomal recessive mode of inheritance. Also, despite largely abnormal calcification of regions including the larynx, tracheobronchial tree, nose, pinna (anatomy), and epiglottis, patients exhibit normal serum calcium and phosphate levels.".
- Keutel_syndrome diseasesdb "33698".
- Keutel_syndrome omim "245150".
- Keutel_syndrome thumbnail Autorecessive.svg?width=300.
- Keutel_syndrome wikiPageID "15912221".
- Keutel_syndrome wikiPageRevisionID "578019316".
- Keutel_syndrome diseasesdb "33698".
- Keutel_syndrome hasPhotoCollection Keutel_syndrome.
- Keutel_syndrome name "Keutel syndrome".
- Keutel_syndrome omim "245150".
- Keutel_syndrome wordnet_type synset-disease-noun-1.
- Keutel_syndrome subject Category:Autosomal_recessive_disorders.
- Keutel_syndrome subject Category:Congenital_disorders.
- Keutel_syndrome subject Category:Rare_diseases.
- Keutel_syndrome subject Category:Syndromes.
- Keutel_syndrome type Abnormality114501726.
- Keutel_syndrome type Abstraction100002137.
- Keutel_syndrome type Anomaly114505821.
- Keutel_syndrome type Attribute100024264.
- Keutel_syndrome type AutosomalRecessiveDisorders.
- Keutel_syndrome type BirthDefect114465048.
- Keutel_syndrome type Cognition100023271.
- Keutel_syndrome type Complex105870365.
- Keutel_syndrome type Concept105835747.
- Keutel_syndrome type Condition113920835.
- Keutel_syndrome type CongenitalDisorders.
- Keutel_syndrome type Content105809192.
- Keutel_syndrome type Defect114464005.
- Keutel_syndrome type Disease114070360.
- Keutel_syndrome type Disorder114052403.
- Keutel_syndrome type Idea105833840.
- Keutel_syndrome type IllHealth114052046.
- Keutel_syndrome type Illness114061805.
- Keutel_syndrome type Imperfection114462666.
- Keutel_syndrome type PathologicalState114051917.
- Keutel_syndrome type PhysicalCondition114034177.
- Keutel_syndrome type PsychologicalFeature100023100.
- Keutel_syndrome type State100024720.
- Keutel_syndrome type Syndrome105870790.
- Keutel_syndrome type Syndromes.
- Keutel_syndrome type Whole105869584.
- Keutel_syndrome type Disease.
- Keutel_syndrome type AilmentCondition.
- Keutel_syndrome type Situation.
- Keutel_syndrome comment "Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin.".
- Keutel_syndrome label "Keutel syndrome".
- Keutel_syndrome sameAs m.03qfwrz.
- Keutel_syndrome sameAs Q6395632.
- Keutel_syndrome sameAs Q6395632.
- Keutel_syndrome sameAs 644.
- Keutel_syndrome sameAs Keutel_syndrome.
- Keutel_syndrome wasDerivedFrom Keutel_syndrome?oldid=578019316.
- Keutel_syndrome depiction Autorecessive.svg.
- Keutel_syndrome isPrimaryTopicOf Keutel_syndrome.
- Keutel_syndrome name "Keutel syndrome".
