- A dictionary of medical eponyms

Sanjad-Sakati syndrome

Alternative eponyms

  • Richardson-Kirk syndrome

Related people

Congenital hypoparathyroidism associated with severe prenatal and postnatal growth retardation and a pattern of facial anomalies.

Description

Congenital hypoparathyroidism associated with severe prenatal and postnatal growth retardation and a pattern of facial anomalies. Inheritance is autosomal recessive.

Sami A. Sanjad has sent us this list of signs associated with the Sanjad-Sakati syndrome:

  • autosomal recessive inheritance (very frequent sign)
  • beaked nose (very frequent sign)
  • deepset eyes/enophthalmos (very frequent sign)
  • depressed nasal bridge (very frequent sign)
  • difficulties for feeding in infancy (very frequent sign)
  • hypoparathyroidy (very frequent sign)
  • long philtrum (very frequent sign)
  • mental retardation(mild) (very frequent sign)
  • microcephaly (very frequent sign)
  • micrognatia/retrognatia (very frequent sign)
  • phosph./calcium metabolism abn. (very frequent sign)
  • seizures (any type) (very frequent sign)
  • short stature/dwarfism (very frequent sign)
  • small foot (very frequent sign)
  • small hand (very frequent sign)
  • thin lips (very frequent sign)
  • teeth anomalies (frequent sign)
  • thick ear lobe (frequent sign)
  • cellular immune deficit (occasional sign)

Bibliography

  • Sami S. Sanjad, N. Sakati, Y. K. Abu-Osba:
    Congenital hypoparathyroidism with dysmorphic features: a new syndrome.
    Pediatric Research, Hagerstown, 1988, 23: A419.
  • R. J. Richardson and J. M. W. Kirk:
    A new short stature, mental retardation syndrome, with hypoparathyroidism.
    Archives of Diseases in Childhood, 1990, 65: 1113-1117.
  • S. Sanjad, N. Sakati, Y. K. Abu-Osba, R. Kaddora, R. D. G. Milner:
    A new sydrome of congenital hypoparathyrodism, seizure, growth failure and dysmorphic features.
    Archives of Disease in Childhood, London, 1991, 66: 193-196.
  • Thaddeus E. Kelly, Susan Blanton, Ramla Saif, Sami A. Sanjad, and Nadia Sakati:
    Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
    Journal of Medical Genetics, London, 2000, 37: 63-64.

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