Syndrome, HDR


The syndrome of familial Hypoparathyroidism, sensorineural Deafness, and Renal dysplasia. Inherited as an autosomal dominant trait, the syndrome is caused by haploinsufficiency of the GATA3 gene in chromosome 10p.

The hypoparathyroidism causes hypocalcemia (a low level of calcium in blood) and lifelong fatigue and depression. The deafness is congenital (present at birth). The kidney dysplasia (malformations) can lead to nephrosis and progressive renal failure. Some patients have micrognathia (small chin) and no teeth.

Haploinsufficiency is caused by changes in the GATA3 gene that render it physically or functionally inactive. These changes include deletions, some of them large enough to be detected under the microscope, and point mutations of a single nucleotide base in GATA3.

The GATA3 gene appears essential to the embryonic development of the ears, parathyroid glands, and kidneys.

Diagnosis of this syndrome (as with many diseases) can make a great difference in a patient’s life. (Sometimes seemingly difficult diagnoses need simple treatments.) Supplemental calcium and calcidiol (vitamin D) can increase the calcium, relieve the fatigue and depression (and transform the quality of life) for the patient.

Read Also:

  • Syndrome, Hecht

    Inherited disorder transmitted as an autosomal dominant trait in which short tight muscles make it impossible to open the mouth fully or keep the fingers straight when the hand is flexed back. The small mouth creates feeding problems. The hands may be so tightly fisted the infant crawls on the knuckles. Also called the trismus […]

  • Syndrome, Horner

    A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidrosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical […]

  • Syndrome, Hurler

    Hurler syndrome and Scheie syndrome. Hurler syndrome patients have progressive mental degeneration, gross facial features, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly (enlargement of the liver and spleen), valvular heart defects, thick skin, joint contractures, and hernias. Scheie syndrome patients have stiff joints, clouding of the cornea, aortic regurgitation (reflux through the aortic […]

  • Syndrome, hypoplastic left heart

    A form of congenital heart disease in which the whole left half of the heart (including the aorta , aortic valve, left ventricle and mitral valve) is underdeveloped (hypoplastic). Blood returning from the lungs has to flow through an opening in the wall between the upper chambers of the heart (an atrial septal defect). The […]

  • Syndrome, ichthyosis-keratitis-deafness

    See Keratitis-ichthyosis-deafness syndrome.


Disclaimer: Syndrome, HDR definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.