Disease onset at birth or in early childhood means that first symptoms were present at birth or appeared during the first at years of life.
Most common diseases
Polyps
Clinical description Despite high variability between families, characteristic PJS polyps generally occur in childhood and early adulthood, with onset often during the first [orpha.net]
Summary Epidemiology Peutz-Jeghers syndrome (PJS) prevalence estimates range from 1/25,000 to 1/300,000 births. [orpha.net]
Hyponatremia
Childhood-onset hypophosphatasia ranges from low bone mineral density with unexplained fractures to rickets. [orpha.net]
Infantile hypophosphatasia is characterized by rickets developing between birth and six months of age. [orpha.net]
Adult hypophosphatasia involves early loss of adult dentition and stress fractures of the lower extremities in middle age. [orpha.net]
Hypercholesterolemia
Conclusions FH is a common autosomal dominant disorder that results in markedly elevated LDL‐C levels from birth and causes early‐onset CAD. [ahajournals.org]
Early diagnosis provides an opportunity to initiate potentially lifesaving and inexpensive generic pharmacotherapy in childhood. [ahajournals.org]
Familial Hypercholesterolemia
Conclusions FH is a common autosomal dominant disorder that results in markedly elevated LDL‐C levels from birth and causes early‐onset CAD. [ahajournals.org]
Early diagnosis provides an opportunity to initiate potentially lifesaving and inexpensive generic pharmacotherapy in childhood. [ahajournals.org]
Long QT Syndrome 15
You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser. Definition A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden[…] [uniprot.org]
Late-onset Depression
This study is the first to distinguish prospectively between juvenile- and adult-onset cases of MDD in a representative birth cohort followed up from childhood into adulthood [jamanetwork.com]
Thus, the observed associations between juvenile-onset and early childhood risk factors were not caused by high-risk families selectively coming to clinical attention. [jamanetwork.com]
The present study is the first to trace prospectively the course of depression in a representative birth cohort from childhood to adulthood, using DSM diagnoses of MDD. [jamanetwork.com]
Neonatal Adrenoleukodystrophy
Clinical description NALD has an onset at birth or early infancy, but manifestations may be subtle enough that it is not diagnosed until late infancy or early childhood (or [orpha.net]
Diabetes Mellitus Type 1
Birth weight and childhood onset type 1 diabetes- population based cohort study. BMJ 322, 889–892 (2001). 94. Group, T. E. S. S. [nature.com]
Rapid early growth is associated with increased risk of childhood type 1 diabetes in various European populations. Diabetes Care 25, 1755–1760 (2002). 95. Verbeeten, K. [nature.com]
X-linked Parkinsonism-Spasticity Syndrome
Age of onset is broken down into infancy (birth to 2 years), childhood (3-12 years), adolescence (13-20), early adulthood (21-40), and late adulthood (greater than 40 years [rarediseases.org]
Classifying dystonia by clinical features includes age of onset, body distribution, temporal pattern, and associated features. [rarediseases.org]
Cesarean Section
[…] and support in early childhood are developed and provided for these potentially vulnerable children. [dx.doi.org]
Nevertheless, there are instances where the spontaneous onset of labor occurs before 39 weeks or planned birth is unavoidable, and it is important that appropriate interventions [dx.doi.org]