C syndrome

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The C syndrome , also known by the synonyms Trigonocephaly Opitz and Opitz's trigonocephaly syndrome , is a very rare congenital symptom complex with fewer than 50 documented case studies , which occurs more frequently in males than in females ( androtropy 3: 1).

features

The symptoms of C syndrome are variable in their phenotypic expression. It cannot therefore be ruled out that it can be traced back to different causes ( heterogeneity ) and, moreover , that it is often not primarily diagnosed as C syndrome, but is integrated into other syndrome diagnoses.

The following features can often be found that are helpful in making a diagnosis: Trigonocephaly with synostosis of the metopic suture , hemangioma (blood sponge) on the forehead, microcephaly , epicanthus medialis , wide, flat nose, specially shaped ears, hexadactyly (postaxial), growth retardation (also already during pregnancy) and finally primordial short stature , heart defects , malformations in the extremities, joint contractures , dysplasias in the urogenital area , cognitive disabilities .

therapy

Therapy can only be symptomatic. Successful surgical correction of cranial suture synostosis has been reported.

research

The specification of the phenotype is still part of research efforts, the delimitation of the symptom complex as a nosological and genetic unit is the goal.

It is possible that within the group of people with C syndrome several independent entities (so far the so-called C-like Bohring-Opitz syndrome ) as well as a group of people with a highly characteristic phenotype are highlighted.

A differentiation from possible differential diagnoses is often difficult, so that here too a reliable diagnosis system is being worked on. So far z. For example, chromosomal aberrations can only be detected in some people , while micro deletions are suspected in others . In the area of ​​clinical symptoms, parallels can be seen with partial trisomy 3p and 3q , monosomy 4p , deletion syndrome of the short arm of chromosome 4 , Jacobsen syndrome and the orofacio-digital syndrome type 6 or Mohr syndrome .

In the area of ​​exogenous research into the causes of C syndrome, there are indications of a connection with valproate embryofetopathy ( valproate syndrome ).

history

In 1969 John Marius Opitz and his collaborators Ronald Johnson, Samuel McCredie and David W. Smith reported about two siblings with certain external characteristics that suggested a syndrome . However, since no previously known syndrome description fit, it was called C syndrome .

Bohring-Opitz syndrome

In this group of people with C syndrome, the characteristics also include a cleft lip and / or palate , dysplasia of the eye retina and exophthalmos .

literature

  • A. Bohring: Dysmorphic Disorders: C syndrome . (in: The NORD Guide to Rare Disorders. Lippincott, Williams & Wilkins. Philadelphia 2003, PA. 162-163)
  • G. Neuhauser: The C-Trigonocephaly-Syndrome . (in: Geistige handicap, 38 (1999) Heft 2, p. 196f)
  • Kinderetzwerk eV: Information folder C-trigonocephaly syndrome

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