Ogden syndrome
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
MONDO:0015333
progeroid syndrome
excluded_subClassOf
MONDO:0021147
disorder of development or morphogenesis
is_a
MONDO:0100124
NAA10-related syndrome
is_a
Acetyl-CoA:arylamine n-acetyltransferase
related
N acetyltransferase 1 deficiency
related
N acetyltransferase deficiency
related
N-terminal acetyltransferase deficiency
exact
NAT1 deficiency
related
OGDNS
exact
Ogden syndrome
exact
Ogden syndrome, X-linked recessive, X-linked dominant
exact
arylamine n-acetyltransferase 1
related
premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
exact
premature aging appearance-developmental delay-cardiac arrhythmia syndrome
exact
SPAC15E1.08