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short-rib polydactyly syndrome type 2

MIM.263520

Wednesday 9 November 2005

The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. This autosomal recessive inheritance is a lethal dwarfism identifiable at birth.

Synopsis

- hydrops fetalis (15605271)

- ocular anomalies (7126521)

  • bilateral ocular agenesis

- median cleft lip
- cleft palate (15605271)
- extremely low set ears (15605271)
- depressed nasal bridge (15605271)

- hypoplastic epiglottis
- malformed larynx
- tracheal stenosis (7981861)

- thoracic anomalies

  • short ribs
  • narrow thorax
  • pulmonary hypoplasia

- gastrointestinal atresia
- gallbladder agenesis
- ascitis
- ambiguous genitalia
- genitourinary atresia

- renal anomalies

- limb anomalies

  • postaxial polydactyly
  • preaxial polydactyly
  • micromelia (short limbs)
  • hallucal and postaxial polysyndactyly of the feet
  • hypoplastic cerebellar vermis
  • hydrops fetalis
  • deficient vertebral ossification
  • metaphyseal dysplasia
  • disproportionate shortening of the tibia
  • normal pelvis
  • markedly stunted and disorganized endochondral ossification

- cerebral anomalies

Variants

- overlap with oral-facial-digital syndrome type 2 (OFD2) (Mohr syndrome)(7981861)

See also

- short rib-polydactyly syndromes (SRPSs)

  • SRPS1 (Saldino-Noonan)
  • SRPS2 (Majewski)
  • SRPS3 (Naumoff)
  • SRPS4 (Beemer-Langer)

References

- Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R.Short rib-polydactyly syndrome.Arch Gynecol Obstet. 2005 Jul;272(2):173-5. PMID: 15605271

- Related Articles, LinksViora E, Sciarrone A, Bastonero S, Errante G, Botta G, Campogrande M.Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report.Ultrasound Obstet Gynecol. 2002 Jan;19(1):88-91. PMID: 11851975

- Montemarano H, Bulas DI, Chandra R, Tifft C.Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.Pediatr Radiol. 1995;25(6):469-71. PMID: 7491205

- Steichen-Gersdorf E, Gassner I, Covi B, Fischer H.Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.Clin Dysmorphol. 1994 Jul;3(3):245-50. PMID: 7981861

- Prudlo J, Stoltenburg-Didinger G, Jimenez E, Cervós-Navarro J.Central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type.Dev Med Child Neurol. 1993 Feb;35(2):158-62. PMID: 8444329

- McCormac RM, Flannery DB, Nakoneczna I, Kodroff MB.Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.Pediatr Pathol. 1984;2(4):457-67. PMID: 6535999

- Thomson GS, Reynolds CP, Cruickshank J.Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski).Clin Radiol. 1982 Sep;33(5):509-17. PMID: 6288313

- Cooper CP, Hall CM.Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.Radiology. 1982 Aug;144(3):513-7. PMID: 7100463

- Majewski F, Pfeiffer RA, Lenz W, Muller R, Feil G, Seiler R (1971): Polydactyly, short limbs, and genital malformations - a new syndrome? Z Kinderheilkd 111: 118-138.