Shprintzen-Goldberg 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 Shprintzen-Goldberg syndrome is a very rare congenital disease with the main features Marfan syndrome -like appearance, facial, heart and skeletal abnormalities, omphalocele and learning disabilities.

Synonyms are: SGS, Marfan-like Craniosynostosis Syndrome; English Shprintzen-Goldberg Craniosynostosis Syndrome; Craniosynostosis With Arachnodactyly and Abdominal Hernias; Marfanoid Disorder With Craniosynostosis, TYPE I; Marfanoid Craniosynostosis Syndrome

The name refers to the authors of a description from 1979 by the US speech pathologist Robert F. Shprintzen and the US clinical geneticist Rosalie B. Goldberg .

The first description was made a year earlier by G. Sugarman and MW Vogel .

The disease should not be confused with the "Shprintzen syndrome", a microdeletion syndrome 22q11 .

distribution

The frequency is given to be less than 1 in 1,000,000, so far about 60 patients have been reported. Inheritance is partly autosomal dominant .

root cause

Of the disease are partially mutations in SKI - gene on chromosome 1 locus p36.33-p36.32 which the signal for the TGF-β regulates, or in the FBN1 gene in the chromosome 15 locus q21.1 based, which for fibrillin-1 coded.

Clinical manifestations

Clinical criteria are:

  • marfanoid habitus
  • craniofacial abnormalities, particularly craniosynostosis , drooping corners of the mouth, noticeable eyebrows, broad nasal bridge
  • Skeletal malformations
  • Cardiovascular system abnormalities
  • Learning disabilities
  • Omphalocele
  • Hypoplasia of the pharynx and / or larynx up to laryngeal atresia

diagnosis

The diagnosis is based on the clinical findings.

Differential diagnosis

The Marfan syndrome and Loeys-Dietz syndrome are to be distinguished .

literature

  • S. Yadav, G. Rawal: Shprintzen-Goldberg syndrome: a rare disorder. In: The Pan African medical journal. Vol. 23, 2016, p. 227, doi: 10.11604 / pamj.2016.23.227.7482 , PMID 27761171 , PMC 5052323 (free full text) (review).
  • PN Robinson, LM Neumann, S. Demuth, H. Enders, U. Jung, R. König, B. Mitulla, D. Müller, P. Muschke, L. Pfeiffer, B. Prager, M. Somer, S. Tinschert: Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. In: American journal of medical genetics. Part A. Vol. 135, No. 3, June 2005, pp. 251-262, doi: 10.1002 / ajmg.a.30431 , PMID 15884042 .

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 Shprintzen-Goldberg syndrome. In: Orphanet (Rare Disease Database).
  3. ^ RJ Shprintzen, RB Goldberg: A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. In: Journal of craniofacial genetics and developmental biology. Vol. 2, No. 1, 1982, pp. 65-74, PMID 6182156 .
  4. ↑ G. Sugarman, MW Vogel: Craniofacial and musculoskeletal abnormalities: a questionable connective tissue disease. In: Syndrome Identification , 1981, Vol. 7, pp. 16-17
  5. ↑ a b c Genetics Home Reference
  6. ↑ Shprintzen-Goldberg syndrome.  In: Online Mendelian Inheritance in Man . (English)

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