Skip to main content
SpringerLink
Log in

Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS)

  • Living reference work entry
  • First Online:
Genetic Syndromes

  • 18 Accesses

Abstract

OMIM: #241410

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

References

  • Albaramki J, Akl K, Al Muhtaseb A, Al Shboul M, Mahmoud T, El Khateb M, Hamamy H (2012) Sanjad Sakati syndrome: a case series from Jordan. EMHJ-East Mediterr Health J 18(5):527–531

    Article  CAS  Google Scholar 

  • Caffey J (1967) Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs—mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol 100:1–11

    Article  CAS  Google Scholar 

  • Chihara K, Kashio Y, Kita T, Okimura Y, Kaji H, Abe H, Fujita T (1986) L-dopa stimulates release of hypothalamic growth hormone-releasing hormone in humans. J Clin Endocrinol Metab 62:466–473

    Article  CAS  PubMed  Google Scholar 

  • Courtens W et al (2006) Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: a new variant not caused by a TBCE mutation—clinical report and review. Am J Med Genet A 140:611–617

    Article  PubMed  Google Scholar 

  • Delitala G, Maioli M, Pacifico A, Brianda S, Palermo M, Mannelli M (1983) Cholinergic receptor control mechanisms for L-dopa, apomorphine, and clonidine-induced growth hormone secretion in man. J Clin Endocrinol Metabol 57:1145–1149

    Article  CAS  Google Scholar 

  • Fanconi S, Fischer JA, Wieland P, Atares M, Fanconi A, Giedion A, Prader A (1986) Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr 109:469–475

    Article  CAS  PubMed  Google Scholar 

  • Hansen KK, Latson LA, Buehler BA, Latson LA (1987) Silver-Russell syndrome with unusual findings. Pediatrics 79:125–128

    Article  CAS  PubMed  Google Scholar 

  • Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, Gorodischer R (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. Isr J Med Sci 31:293–297

    CAS  PubMed  Google Scholar 

  • Jones KL, Jones MC, Del Campo M (2013) Smith’s recognizable patterns of human malformation. Elsevier Health Sciences

    Google Scholar 

  • Kalam M, 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

    Article  CAS  PubMed  Google Scholar 

  • Kelly TE, Blanton S, Saif R, Sanjad SA, Sakati NA (2000) Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. J Med Genet 37:63–64

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kenny FM, Linarelli L (1966) Dwarfism and cortical thickening of tubular bones: transient hypocalcemia in a mother and son. Am J Dis Child 111:201–207

    Article  CAS  PubMed  Google Scholar 

  • Lee W, Vargas A, Barnes J, Root A (1983) The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. Am J Med Genet 14:773–782

    Article  CAS  PubMed  Google Scholar 

  • Lopez-Fanarraga M, Avila J, Guasch A, Coll M, Zabala JC (2001) Postchaperonin tubulin folding cofactors and their role in microtubule dynamics. J Struct Biol 135:219–229

    Article  CAS  PubMed  Google Scholar 

  • Marsden D, Nyhan WL, Sakati NO (1994) Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. Am J Med Genet 52:334–338

    Article  CAS  PubMed  Google Scholar 

  • McKusick VA (2014) Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Elsevier

    Google Scholar 

  • Me C, Beckwith J, Mancer J, Tenckhoff L (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883–890

    Article  Google Scholar 

  • Padidela R, Kelberman D, Press M, Al-Khawari M, Hindmarsh PC, Dattani MT (2009) Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. J Clin Endocrinol Metabol 94:2686–2691

    Article  CAS  Google Scholar 

  • Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, Sheffield VC, Carmi R (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 1q42-43. Am J Human Genet 63:163–169

    Article  CAS  Google Scholar 

  • Parvari R et al (2002) Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. Nat Genet 32:448–452

    Article  CAS  PubMed  Google Scholar 

  • Pierre P, Pepperkok R, Kreis TE (1994) Molecular characterization of two functional domains of CLIP-170 in vivo. J Cell Sci 107:1909–1920

    Article  CAS  PubMed  Google Scholar 

  • Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiani A (2015) The Bedouin mutation c. 155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. Ann Saudi Med 35:170–172

    Article  PubMed  PubMed Central  Google Scholar 

  • Ravindra R, Grosvenor C (1990) Effect of ovine prolactin on tubulin function in the anterior pituitary lobe of the lactating rat. Endocrinology 127:1748–1754

    Article  CAS  PubMed  Google Scholar 

  • Richardson R, Kirk J (1990) Short stature, mental retardation, and hypoparathyroidism: a new syndrome. Arch Dis Child 65:1113–1117

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Samuels BA, Tsai L-H (2004) Nucleokinesis illuminated. Nat Neurosci 7:1169–1170

    Article  CAS  PubMed  Google Scholar 

  • Sanjad S, Sakati N, Abu-Osba Y (1988) Congenital hypoparathyroidism with dysmorphic features: a new syndrome. Pediatr Res 23:271A

    Google Scholar 

  • Sanjad S, Sakati NA, Abu-Osba Y, Kaddoura R, Milner R (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66:193–196

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Shu T, Ayala R, Nguyen M-D, Xie Z, Gleeson JG, Tsai L-H (2004) Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron 44:263–277

    Article  CAS  PubMed  Google Scholar 

  • Tahseen K, Khan S, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. Am J Med Genet 69:126–132

    Article  CAS  PubMed  Google Scholar 

  • Tanaka T, Serneo FF, Higgins C, Gambello MJ, Wynshaw-Boris A, Gleeson JG (2004) Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol 165:709–721

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tapanainen P, Knip M, Lautala P, Leppäluoto J (1988) Variable plasma growth hormone (GH)-releasing hormone and GH responses to clonidine, L-dopa, and insulin in normal men. J Clin Endocrinol Metabol 67:845–849

    Article  CAS  Google Scholar 

  • Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ (1996) Pathway leading to correctly folded β-tubulin. Cell 86:287–296

    Article  CAS  PubMed  Google Scholar 

  • Tian G, Lewis SA, Feierbach B, Stearns T, Rommelaere H, Ampe C, Cowan NJ (1997) Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors. J Cell Biol 138:821–832

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Xie Z, Sanada K, Samuels BA, Shih H, Tsai L-H (2003) Serine 732 phosphorylation of FAK by Cdk5 is important for microtubule organization, nuclear movement, and neuronal migration. Cell 114:469–482

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Helya Bolouki Azari

  2. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  3. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

    Nima Rezaei

  4. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

Authors
  1. Helya Bolouki Azari
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Nima Rezaei
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

Rights and permissions

Reprints and permissions

Copyright information

© 2023 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Bolouki Azari, H., Rezaei, N. (2023). Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS). In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1832-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-66816-1_1832-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-66816-1

  • Online ISBN: 978-3-319-66816-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation