Autosomal recessive inheritance means both parents carry the altered gene; VCKD can bring developmental delays, motor difficulty, kidney dysfunction and hypertension.
CYP27B1 mutations block conversion of 25-hydroxyvitamin D into calcitriol, so calcium and phosphate absorption falls and bone pain, bowed legs and delayed growth follow.
An autosomal dominant change in the VCAN gene drives the vitreoretinal degeneration and progressive vision loss of Wagner syndrome, which testing can confirm.
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Caused by CUL7, OBSL1 or CCDC8 mutations and inherited recessively, 3-M syndrome brings severe growth retardation, a triangular face and short long bones.
Amyloid plaques build up in the brain when BRI2 (ITM2B) is mutated, causing the dementia, ataxia and neuropathy of ADan amyloidosis; MRI and PET support diagnosis.
Passed on in an autosomal dominant pattern, ALS4 is confirmed by SETX gene testing after EMG, nerve conduction studies and MRI rule out other disorders.
Liver disease, pulmonary artery stenosis, butterfly vertebrae and posterior embryotoxon point to this autosomal dominant disorder caused by JAG1 or NOTCH2.