Oro-facio-digital syndrome type 4

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Oro-facial-digital syndrome type 4 or ( OFD IV ) is a very rare genetic disease with a combination of hamartomas , polysyndactyly , leg shortening and club foot and is one of the Oro-facial-digital syndromes .

Synonyms are: Baraitser burn syndrome , Mohr-Majewski syndrome

The name refers to the authors of the first description from 1983 by M Baraitser , J. Burn et al .

The syndrome is not to be confused with Mohr's syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is presumably autosomal - recessive . About 15 patients have been described to date.

root cause

The disease is based on mutations in the TCTN3 gene at location 10q24.1.

Clinical manifestations

Clinical criteria are:

  • Tongue hamartomas
  • postaxial polysyndactyly of the hands and feet
  • mesomelic shortening of the legs with tibial dysplasia
  • Clubfoot.

In addition to hypoplastic mandible , micrognathia , cleft palate , Larynxatresie , prominent eyes and low-set ears come. The intelligence is normal. Occipitoschisis, brain malformations, colobomas , cysts in the liver or kidneys, chest chest , anal atresia and joint dislocations can also be part of the syndrome.

diagnosis

The diagnosis can already be suspected in the womb with a fine ultrasound .

Differential diagnosis

Other types of orofacio-digital syndrome must be distinguished. The pronounced tibial dysplasia distinguishes this type from type I.

literature

  • M. Baraitser: The orofaciodigital (OFD) syndromes. In: Journal of Medical Genetics . Vol. 23, No. 2, April 1986, ISSN  0022-2593 , pp. 116-119, PMID 3712388 , PMC 1049564 (free full text).
  • P. Kahl, LC Heukamp, ​​R. Buettner, N. Friedrichs, B. Roesing, G. Knopfle: Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. In: Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Pediatric Pathology Society. Vol. 10, No. 3, 2007 May-Jun, ISSN  1093-5266 , pp. 239-243, doi: 10.2350 / 06-03-0058.1 . PMID 17535085 .
  • B. Rösing, A. Kempe, C. Berg, P. Kahl, G. Knöpfle, U. Gembruch, A. Geipel: Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. In: Ultrasound in Obstetrics & Gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 31, No. 4, April 2008, ISSN  1469-0705 , pp. 457-460, doi: 10.1002 / uog.5285 . PMID 18383484 .

Individual evidence

  1. ↑ a b c Oro-facio-digital syndrome type 4. In: Orphanet (database for rare diseases).
  2. ↑ M. Baraitser, J. Burn, J. Fixsen: A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? In: Journal of Medical Genetics . Vol. 20, No. 1, February 1983, ISSN  0022-2593 , pp. 65-67, PMID 6842538 , PMC 1048990 (free full text).
  3. ^ Oro-facio-digital syndrome type 4.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ a b K. Rahul, A. Ketkee, B. Amrita, J. Hansa, D. Archana, S. Nishit Kumar: Distinction of Mohr's syndrome from OFD type I: case report and review of the literature. In: Oral health and dental management. Vol. 12, No. 3, September 2013, ISSN  2247-2452 , pp. 180-185, PMID 24352311 .
  5. ^ B. Rösing, A. Kempe, C. Berg, P. Kahl, G. Knöpfle, U. Gembruch, A. Geipel: Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 31, No. 4, April 2008, ISSN  1469-0705 , pp. 457-460, doi: 10.1002 / uog.5285 . PMID 18383484 .