Pena Shokeir 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)

When Pena Shokeir syndrome is a very infrequent congenital disease that often premature or stillbirths leads. Surviving infants usually die within a few days to months after birth. A distinction is made between Pena Shokeir syndrome type I and type II . The syndrome cannot be traced back to a clearly defined cause; the diagnosis is only made on the basis of symptoms.

Because of the many similarities to trisomy 18 , the Pena Shokeir syndrome is also called pseudo trisomy 18 .

Further synonyms are: pseudo-trisomy 18; Fetal akinesia / hypokinesia sequence; Cerebro-oculo-facial-skeletal syndrome (COFS syndrome); Fetal Akinesia Deformation Syndrome (FADS); Pena-Punnett syndrome, COFS syndrome type II

The names refer to the authors of the first description from 1974 by the Canadian human geneticists SDJ Peña and MHK Shokeir and at the same time by the US pediatricians Hope H. Punnet, Mildred L. Kistenmacher.

distribution

The frequency is given as about 1 in 12,000 births or less than 1 in 1,000,000, inheritance is autosomal - recessive .

Classification

A distinction is made between Pena Shokeir syndrome type I and type II , there with further details.

Symptoms

Symptoms are malformations and underdevelopment of external and internal organs. An underdeveloped lung ( pulmonary hypoplasia ) is typical . Externally, facial anomalies and joint contractures ( arthrogryposis ), which are caused by impaired mobility ( akinesia ), often occur. In addition, there is a strong increase in the amniotic fluid ( polyhydramnios ), mostly due to the inability of the fetus to swallow the amniotic fluid .

diagnosis

The physical symptoms described, the akinesia and the increased occurrence of amniotic fluid can already be diagnosed during pregnancy by means of ultrasound examinations (often with fine ultrasound ). A clear z. B. molecular diagnostics of the Pena Shokeir syndrome does not exist. The diagnosis is therefore usually based on pathological findings and exclusion criteria ( differential diagnosis ) for other diseases.

Differential diagnosis

Among other things, the multiple pterygium syndrome must be distinguished .

Repetition probability

Since the relationship to genetic causes has not been clarified and the syndrome may be influenced by several genes, only statistical statements can be made about the likelihood of recurrence. The repetition probability is between 0.01% and 25%. The degree of relationship between the parents and the occurrence of similar diseases in both families play a role. In contrast to genome mutations (such as forms of trisomy ), the probability of occurrence does not increase with the age of the mother.

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. ↑ a b Radiopaedia
  3. ↑ SD Pena, MH Shokeir: Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. In: The Journal of pediatrics. Volume 85, Number 3, September 1974, pp. 373-375, PMID 4431498 .
  4. ↑ HH Punnett, ML Kistenmacher, M. Valdes-Dapena, RT Ellison: Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia. In: The Journal of pediatrics. Volume 85, Number 3, September 1974, pp. 375-377, PMID 4154411 .
  5. ↑ a b Fetal akinesia / hypokinesia sequence. In: Orphanet (Rare Disease Database).
  6. ^ COFS syndrome. In: Orphanet (Rare Disease Database).

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