Keutel syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Keutel syndrome is a very rare congenital disease with the main features brachytelephalangia , diffuse cartilage calcification ( calcium deposits ) in the cartilage , peripheral pulmonary stenosis , facial abnormalities and hearing impairment .

Synonyms are: pulmonary stenosis - brachytelephalangia - cartilage calcifications

The name refers to the first authors of the first description from 1972 by the Göttingen doctor Jürgen Keutel and colleagues in 1972.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been described. The inheritance is presumably autosomal - recessive .

root cause

Of the disease are mutations in the MGP - gene in the chromosome 12 locus P12.3 based encoding the Matrix Gla protein.

Clinical manifestations

Clinical criteria are:

In addition, punctiform calcifications of the epiphyses of the long tubular bones and the vertebral bodies can occur.

diagnosis

The suspected diagnosis is based on the clinical findings, calcifications and brachytelephalangia can be found in the x-ray .

Differential diagnosis

The following are to be distinguished: warfarin embryopathy , the hereditary combined deficiency of vitamin K-dependent coagulation factors , Keipert syndrome and chondrodysplasia with brachytelephalangia .

Prospect of healing

The prognosis depends on the degree of lung involvement.

literature

  • HE Khosroshahi, SC Sahin, Y. Akyuz, H. Ede: Long term follow-up of four patients with Keutel syndrome. In: American journal of medical genetics. Part A. Vol. 164A, No. 11, November 2014, pp. 2849-2856, doi: 10.1002 / ajmg.a.36699 , PMID 25123378 .
  • T. Bosemani, RJ Felling, E. Wyse, MS Pearl, A. Tekes, E. Ahn, A. Poretti, TA Huisman: Neuroimaging findings in children with Keutel syndrome. In: Pediatric radiology. Vol. 44, No. 1, January 2014, pp. 73-78, doi: 10.1007 / s00247-013-2768-0 , PMID 23917590 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c Keutel syndrome. In: Orphanet (Rare Disease Database).
  3. Jump up ↑ J. Keutel, G. Jorgensen, P. Gabriel: A new autosomal recessive syndrome: peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications-ossification. In: Birth Defects Original Article Series VIII, No. 5, 1972, pp. 60-68
  4. ↑ Keutel syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Orphanet || combined vitamin K-dependent coagulation factor deficiency

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