Hypoparathyroidism retardation dysmorphism syndrome

Hypoparathyroidism retardation dysmorphism syndrome: An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. ...1

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Hypoparathyroidism retardation dysmorphism syndrome: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth ...2

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Symptoms of Hypoparathyroidism retardation dysmorphism syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Hypoparathyroidism retardation dysmorphism syndrome

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)3 ...

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Diagnosis

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Treatments

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Causes

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Names and Terminology

Synonyms: HRD syndrome ; Hypoparathyroidism with short stature, mental retardation and seizures ; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay ; Sanjad-Sakati syndrome Source ...4

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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1855840/ 
  4. ibid.

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