Holt-Oram syndrome is an autosomal dominant disorder
associated with aplasia or hypoplasia of the digital rays and radius with CHD.
2 This is an autosomal dominant disorder
with less penetrance in men so mainly expressed in females.
Gardner's syndrome is an autosomal dominant disorder
and a subtype of FAP.
Koch, professor of pediatric neurology at the Medical University of South Carolina, Charleston, described tuberous sclerosis (TSC) as an autosomal dominant disorder
with variable penetrance.
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder
in the majority of patients.
Piebaldism is an autosomal dominant disorder
that presents with congenital poliosis and leukoderma, often with hyperpigmented macules noted on both depigmented patches and normal skin.
This is a rare autosomal dominant disorder
caused by mutation in the gene encoding for K6/16 and K17 that typically affects the nails and palmo-plantar skin and often the oral mucosa, tongue, larynx, teeth and hair.
Char syndrome is an autosomal dominant disorder
characterized by patent ductus arteriosus (PDA), facial dysmorphism and abnormalities of the fifth finger of the hand (1).
The autosomal dominant disorder
is caused by a mutation in one of four DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2.
It has been reported that anywhere from 50% to 90% of pulmonary AVMs are associated with hereditary hemorrhagic telangiectasia (HHT), an unusual autosomal dominant disorder
also referred to as Rendu-Osler-Weber syndrome.
1) It is a congenital autosomal dominant disorder
, characterized by generalized dysplasia of osseous and dental tissue commonly resulting in defects in the skull, clavicle and teeth.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder
characterised by seizures, cutaneous lesions and hamartomatous lesions in various organs (1).
Familial hypercholesterolemia is an autosomal dominant disorder
, so a child with the disorder will have an affected parent.
The most common cause of sudden cardiac death in children is hypertrophic cardiomyopathy, an autosomal dominant disorder
seen in approximately 1 of every 500 people.
An autosomal dominant disorder
occurs when one out of a pair of genes produces a dominant, abnormal protein that masks or interferes with the function of the other (Brooker, 2005).