Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Keutel syndrome

ORPHA85202
Synonym(s) Pulmonic stenosis - brachytelephalangism - calcification of cartilages
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.8
OMIM
UMLS
  • C1855607
MeSH
  • C536167
MedDRA -

Summary

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Less than 30 cases have been reported in the literature so far, with the majority of patients being diagnosed during childhood. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia (broad and depressed nasal bridge with small alae nasi). Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. Additional findings of white matter anomalies, encephalomalacia, optic nerve atrophy, and lax and doughy skin with prominent skin folds were reported in one affected family. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). Diagnosis is usually suspected on the basis of the clinical presentation and radiographic examination, with abnormal cartilage calcification and brachytelephalangism being the cardinal signs of the syndrome. The diagnosis can be confirmed by mutation analysis. 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. Treatment is symptomatic and may involve angiographic dilatation for peripheral pulmonary artery stenosis and bronchodilating agents to relieve dyspnea and wheezing. The prognosis for most patients is good, but life expectancy depends on the extent of thepulmonary involvement.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.