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short rib-polydactyly syndromes

Wednesday 26 May 2004

Definition: The short rib-polydactyly syndromes (SRPSs) are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs.

Short rib-polydactyly syndromes (SRPSs) are a descriptive category for a group of lethal skeletal dysplasias characterized by a hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities.

The 4 established variants are SRPS I (Saldino-Noonan type), SRPS II (Majewski type; MIM.263520), SRPS III (Verma-Naumoff type; MIM.263510), and SRPS IV (Beemer-Langer type; MIM.269860).

Type II (Majewski) short rib polydactyly can be distinguished from the Type I/III (Saldino-Noonan) type on the basis of radiographic and histologic changes.

All of the variants are thought to be inherited in an autosomal recessive pattern. Because of the frequent phenotypic overlap, however, there is controversy as to whether the variants are due to variable expression or to genetic heterogeneity. (#12210298#, #10517252#, #8301649#, #3981580#)

Types

- SRPS1: Saldino-Noonan syndrome (MIM.265530)
- SRPS2: Majewski syndrome (MIM.263520)
- SRPS3: Verma-Naumoff syndrome (MIM.263510)
- SRPS4: Beemer-Langer syndrome (MIM.269860)
- Ellis-van Creveld disease (EVC1 and EVC2)
- unclassifiable short rib-polydactyly syndrome (#17935248#)

  • short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia (#17935248#)

Synopsis

- short ribs
- short limbs
- polydactyly
- multiple anomalies of major organs (visceral anomalies)
- hypoplastic thorax
- chondral calcospherite (#2080437#)

Associations

- situs inversus (#1481807#, #1519646#)
- persistent truncus arteriosus
- endocardial cushion defect
- hypoplastic lungs
- hypoplastic adrenal glands
- vaginal atresia
- polycystic pancreas in short-rib polydactyly syndrome type 3 (SRPS3) (Verma-Naumoff syndrome) (MIM.263510) (#8172252#)

- cerebral malformations

  • multiple cyst formation in the parenchyma
  • primary malformations of the nervous and mesenchymal tissues
  • deposition of an unusual substance in the cerebral white matter
  • capillary telangiectasia of the pia mater and choroid plexus
  • olfactory dysplasia with asymmetry
  • focal cortical dysplasia in the frontal lobe and cerebellum
  • olivary dysplasia
  • enlargement of the posterior part of the lateral ventricle
  • neuronal migration disorders (#16719409#)

- renal anomalies

  • bilateral renal agenesis (#8543114#)
  • obstructive renal dysplasia (#11746172#)
  • bilateral non-obstructive renal dysplasia (#11746172#)
  • glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type (SRPS2) (#7491205#, #8398663#)
  • bilateral non-obstructive renal dysplasia (BNORD) and polycystic pancreas in short-rib polydactyly syndrome type 3 (SRPS3) (Verma-Naumoff syndrome) (MIM.263510) (#8172252#)

- cystic hygroma (#10064412#)
- choroid plexus cysts (#10064412#)
- penile agenesis (#7726223#)
- cerebral malformations (#8267012#)

  • anencephaly (#8267012#)

Cytogenetic anomalies

- pericentric inversion of chromosome 4 (#7909650#)
- 17q paracentric inversion mosaicism (#7856642#)

Loci

- chromosome 4 (#7909650#)

  • 4p16 (#8054971#)
  • 4q13

Differential diagnosis

- all skeletal dysplasias with micromelia and short ribs

  • thanatophoric dwarfism
  • chondrodysplasia punctata
  • osteogenesis imperfecta
  • campomelic dysplasia
  • oro-facial-digital syndrome type II (with Majewski type)

References

- Elcioglu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. Am J Med Genet. 2002 Sep 1;111(4):392-400. PMID: #12210298#

- Guschmann M, Horn D, Entezami M, Urban M, Hänel S, Kunze J, Vogel M. Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.Prenat Diagn. 2001 May;21(5):378-82. PMID: #11360278#

- Sarafoglou K, Funai EF, Fefferman N, Zajac L, Geneiser N, Paidas MJ, Greco A, Wallerstein R.Short rib-polydactyly syndrome: more evidence of a continuous spectrum.Clin Genet. 1999 Aug;56(2):145-8. PMID: #10517252#

- Lavanya R, Pratap K.Short rib polydactyly syndrome—a rare skeletal dysplasia.Int J Gynaecol Obstet. 1995 Sep;50(3):291-2. PMID: #8543114#

- Martínez-Frías ML, Bermejo E, Urioste M, Huertas H, Arroyo I.Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.J Med Genet. 1993 Nov;30(11):937-41. PMID: #8301649#

- Martínez-Frías ML, Bermejo E, Urioste M, Egüés J, López Soler JA.Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? Am J Med Genet. 1993 Oct 1;47(5):782-7. PMID: #8267012#

- Keating SJ, Eyre DR, Pritzker KP.Short rib polydactyly syndrome type I: an autopsy approach to diagnosis of chondrodysplasias.Mod Pathol. 1989 Sep;2(5):427-32. PMID: #2813343#

- Erzen M, Stanescu R, Stanescu V, Maroteaux P.Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia.Ann Genet. 1988;31(3):144-50. PMID: #2464965#

- Bernstein R, Isdale J, Pinto M, Du Toit Zaaijman J, Jenkins T.Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.J Med Genet. 1985 Feb;22(1):46-53. PMID: #3981580#

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