You are here

  • Home
  • Archive
  • Volume 37, Issue 2
  • Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome

Article Text

Article menu

This article has Replies. Please see:

Download PDFPDF

Letters to the editor
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome
Free
  1. AHMAD S TEEBI
  1. Division of Clinical Genetics, The Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada

    http://dx.doi.org/10.1136/jmg.37.2.145

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

      Editor—In the December 1998 issue ofJournal of Medical Genetics, four letters discussed whether or not Kenny-Caffey syndrome (KCS) is a part of CATCH 22.1-4 These were based on a report of four Bedouin sibs with an unusual form of KCS that includes the additional features of marked IUGR, severe psychomotor retardation, and microcephaly. Two of the affected sibs and their phenotypically normal mother were found to have microdeletion 22q11.5 The same authors subsequently suggested that this entity represents the Arab variant of KCS and because of some clinical resemblance to DiGeorge syndrome (DGS) they suggested that the phenotype is the result of 22q11 microdeletion or some abnormality of chromosome 10p where a second locus for DGS lies.6

      This entity was originally described by Sanjadet al 7 8 in 1988 and 1991 as a new syndrome consisting of congenital hypoparathyroidism, seizures, growth and developmental retardation, and dysmorphic features in a group of Arab children of consanguineous parents. Several other reports followed.9-14 All were Arabs, particularly Bedouin, with several sets of multiple affected sibs. The children have recognisable identical facies with deep set eyes, depressed nasal bridge with a beaked nose, long philtrum, thin upper lip, micrognathia, and large, floppy ear lobes. Medullary stenosis and other skeletal defects were found in most of them. This, together with the hypocalcaemia, hyperphosphataemia, and low concentration of immunoreactive parathyroid hormone in some of them, makes the phenotype similar to KCS. Recently the syndrome was localised to 1q42-43 by three independent groups.15-17 Although they have a similar phenotype, different locus names have been given, namelyHRD for hypoparathyroidism, retarded growth and development, and dysmorphism,14 KCS for autosomal recessive KCS,15 and SSS for Sanjad-Sakati syndrome.17 The name of the syndrome in OMIM is hypoparathyroidism-retardation-dysmorphism and is given the number 241410 with autosomal recessive inheritance considered certain. The acronym Sanjad-Sakati syndrome is shown as an alternative. It is also listed among the Arab diseases in our text bookGenetic disorders among Arab populations.18

      With regard to the family with 22q11 microdeletion, the association is probably fortuitous or as a remote possibility it might be the cause in a subset of patients with this Arab disease. This issue should be easily resolved at the molecular level.

      I believe that it is important for us (practitioners and scientists) to decide on one term for this disorder. For convenience and in order to credit the original authors, I suggest the acronym “Sanjad-Sakati” for the syndrome and HRD for the locus, an abbreviation which refers to the components of the syndrome.

      References

      1. ↵
        1. Yorifuji T,
        2. Muroi J,
        3. Uematsu A
        (1998) Kenny-Caffey syndrome without the CATCH 22 deletion. J Med Genet 35:1054.
      2. ↵
        1. Goodship J
        (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 35:1054.
      3. ↵
        1. Kirk J
        (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 35:1054.
      4. ↵
        1. Sabry MA,
        2. Zaki M,
        3. Shaltout A
        (1998) Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. J Med Genet 35:1054–1055.
      5. ↵
        1. Sabry MA,
        2. Zaki M,
        3. Abul Hassan SJ,
        4. et al.
        (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 35:31–36.
        OpenUrlAbstract/FREE Full Text
      6. ↵
        1. Sabry MA,
        2. Shaltout A,
        3. Zaki M,
        4. et al.
        (1998) Kenny-Caffey syndrome: an Arab variant. Am J Hum Genet Suppl 63:A118.
        OpenUrl
      7. ↵
        1. Sanjad S,
        2. Sakati N,
        3. Abu-Osba Y
        (1998) Congenital hypoparathyroidism with dysmorphic features: a new syndrome. Pediatr Res 23:A419.
        OpenUrl
      8. ↵
        1. Sanjad SA,
        2. Sakati NA,
        3. Abu-Osba YK,
        4. Kaddora R,
        5. Milner RDG
        (1991) A new sydrome of congenital hypoparathyrodism, seizure, growth failure and dysmorphic features. Arch Dis Child 66:193–196.
        OpenUrlAbstract/FREE Full Text
      9. ↵
        1. Richardson RJ,
        2. Kirk JMW
        (1990) Short stature, mental retardation and hypoparathyroidism: a new syndrome. J Med Genet 65:1113–1117.
        OpenUrl
      10. ↵
        1. Kalam MA,
        2. Hafeez W
        (1992) Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features-another case of this new syndrome. Clin Genet 42:110–113.
        OpenUrlPubMed
      11. ↵
        1. Marsden D,
        2. Nyhan Wl,
        3. Sakati NA
        (1994) Syndrome of hypoparathyroidism, growth hormone dificulty and multiple minor anomalies. Am J Med Genet 52:334–338.
        OpenUrlCrossRefPubMed
      12. ↵
        1. Hershkovitz E,
        2. Shaltitin S,
        3. Levy J
        (1995) , et al. The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay: a report of 6 patients. Israel J Med Sci 31:293–297.
      13. ↵
        1. Khan KTS,
        2. Uma R,
        3. Usha R,
        4. et al.
        (1997) Kenny-Caffey syndrome in six bedouin sibships: autosomal recessive inheritance confirmed. Am J Med Genet 69:126–132.
        OpenUrlCrossRefPubMed
      14. ↵
        1. Al-Gazali LI,
        2. Dawodu A
        (1997) The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies. Clin Dysmorphol 6:233–237.
        OpenUrlCrossRefPubMed
      15. ↵
        1. Parvari R,
        2. Hershkovitz E,
        3. Kanis A,
        4. et al.
        (1998) Homozygosity and linkage disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-3. Am J Hum Genet 63:163–169.
        OpenUrlCrossRefPubMedWeb of Science
      16. ↵
        1. Gelb BD,
        2. Khan KTS,
        3. Diaz GA
        (1998) The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-43. Am J Hum Genet Suppl 63:A290.
        OpenUrlCrossRef
      17. ↵
        1. Ali F,
        2. Diaz GA,
        3. Sakati N,
        4. et al.
        (1998) Localization of the gene for the Sanjad-Sakati syndrome to 1q43. Am J Hum Genet Suppl 63:A279.
      18. ↵
        1. Teebi AS,
        2. Farag TI
        1. Teebi AS
        (1997) Introduction. in Genetic disorders among Arab populations. eds Teebi AS, Farag TI (Oxford University Press, Oxford), pp 1–26.

      Linked Articles