Sanjad-Sakati syndrome
Related people
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.