Oro-facio-digital syndrome type 1

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

The ofd1 ( OFD1 ) also Papillon Léage-Psaume syndrome or Oral-facial-digital syndrome 1 called, is a very rare X-linked - dominant inherited disease and is one of the Oro-fazio -digital syndromes .

The disease is prenatally fatal for males .

Clinical picture

The clinical picture of OFD1 shows up in the affected patients through malformations in the oral cavity (pseudo cleft of the upper lip, cleft palate , split tongue, high palatal arch, fixation of the tongue, tooth anomalies) ( oral malformations); a facial dysmorphism (balcony forehead, facial asymmetry, hypertelorism , enlarged nasal root , milia of the facial skin ) ( facial malformations) and the fingers ( syndactyly , brachydactyly , clinodactyly , polydactyly ) (malformations of the fingers, English digit = "fingers"). Many patients have a tendency to have polycystic kidneys ( cystic kidneys ). These are usually diagnosed very late when the kidney failure is well advanced.

Oro-facio-digital syndrome 1 is fatal for males even before birth (prenatal). The cause of in utero death is still unknown. The affected fetuses are expelled as a miscarriage in the first or second trimester .

The manifestation of the individual disease characteristics can also be very different within a family. The spectrum can range from the most severe damage to mild symptoms such as misaligned teeth. The cause of this range of characteristics can be explained by the X-inactivation (Lyon hypothesis).

genetics

OFD1 is caused by mutations in the CXORF5 gene , which is located on the X chromosome gene locus p22.2-22.3.

The function of the encoded from CXORF5 protein is still unclear. No sequence homologues of the CXORF5 sequence have so far been found in other mammals . About 75% of OFD1 diseases are spontaneous mutations that occur almost exclusively in women. The mechanism of how and why mutations in CXORF5 lead to polycystic kidneys is still largely unclear.

Prevalence and incidence

The prevalence in newborns is around 1: 250,000. The incidence is around 1: 50,000. The disease is therefore very rare.

therapy

Individual symptoms can be corrected surgically.

Initial description

OFD1 was first described by Papillon-Leage and Psaume in 1954 in eight girls with oral, facial, and digital abnormalities. Gorlin and Psaume postulated the X-linked dominant ( hemizygous ) inheritance , which is fatal for male offspring. In 1964, Doege and colleagues first described the association with polycystic kidneys in mother and daughter with OFD1.

Differential diagnosis

The Van der Woude syndrome must be distinguished .

Individual evidence

  1. ↑ 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. ↑ AA Connacher et al.: Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. In: J. Med. Genet. 24, 1987, pp. 116-122. PMID 3560170
  3. ↑ SA Feather et al .: Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. In: Nephrol. Dial. Transplant 12, 1997, pp. 1354-1361. PMID 9249769
  4. ↑ a b c E. Prati: Oro-facio-digital sydrome type 1. In: Orphanet Encyclopedia October 2004
  5. ^ A b c R. Witkowski et al: Lexicon of Syndromes and Malformations. Springer, 2003, ISBN 3-540-44305-3 , pp. 957-958.
  6. ↑ SA Feather et al .: The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. In: Hum. Molec. Genet. 6, 1997, pp. 1163-1167. PMID 9215688
  7. ^ RJ Gorlin and J. Psaume: Orodigitofacial dysostosis - a new syndrome. In: J. Pediat. 61, 1962, pp. 520-530. PMID13900550
  8. ^ TC Doege et al.: Studies of a family with the oral-facial-digital syndrome. In: New Eng. J. Med. 271, 1964, pp. 1073-1080. PMID14210999
  9. ↑ MJE Harrod et al: Polycystic kidney disease in a patient with the oral-facial-digital syndrome type I. In: Clin. Genet. 9, 1976, pp. 183-186. PMID 1248177

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