Central diabetes insipidus

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).

Clinodactyly

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).


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PMID (PMCID)
31012281
 OTHER
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB.
Am J Med Genet A. 2019;179(7):1299-1303.
Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C8201>8201T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus (CDI).