Possible Causes for onset at birth or in early childhood 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] Neuronal Ceroid Lipofuscinosis Type 10 Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy. Clinical and pathological study of four cases Ceróide-lipofuscinose neuronal, um tipo de idiotia amaurótica familiar: estudo clínico-patológico de quatro casos Luciano de Souza Queiroz I ; Joaquim N. da Cruz Neto II ; J. Lopes de Faria III I Faculdade de[…] [scielo.br] 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 Type 1 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] 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 with Spasticity 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] Lymphatic Malformation Type 4 […] at birth or in early childhood two unrelated families have been reported (last curated july 2014) Classifications: Summaries for Lymphatic Malformation 4 UniProtKB/Swiss-Prot [malacards.org] Hereditary, 1d 76 Hereditary Lymphedema Id 76 Lmph1d, Formerly 58 Lmphm4 58 Lmph1d 76 Characteristics: OMIM: 58 Inheritance: autosomal dominant Miscellaneous: variable severity onset [malacards.org] Dilated Cardiomyopathy Type 2B The disorder is slowly progressive with onset at birth and fatal outcome in early childhood due to bronchopneumonia or congestive heart failure. [ncbi.nlm.nih.gov] Essential Tremor Unlike Parkinson’s, where the onset of the condition is rare before age 55, Essential Tremor can present at birth or during early childhood. [thehopenet.org] Schizophrenia Although schizophrenia rarely manifests in early childhood, childhood factors influence disease onset in adulthood. [merckmanuals.com] These factors include Genetic predisposition Intrauterine, birth, or postnatal complications Viral central nervous system infections Childhood trauma and neglect Although [merckmanuals.com] These factors include Genetic predisposition Intrauterine, birth, or postnatal complications Viral CNS infections Childhood trauma and neglect Although many people with schizophrenia [merckmanuals.com] Progressive Myoclonic Epilepsy Type 3 Areflexia was documented in 9 of 12 patients, and hypotonia in 7 of 12 patients identified from birth to early childhood. [academic.oup.com] Neurological findings The clinical pattern was remarkably uniform with ataxia being the first definite feature; mean onset age of 2.3 years (range 1–3.5 years; Table 1). [academic.oup.com] Progressive Myoclonic Epilepsy Type 7 Areflexia was documented in 9 of 12 patients, and hypotonia in 7 of 12 patients identified from birth to early childhood. [academic.oup.com] Neurological findings The clinical pattern was remarkably uniform with ataxia being the first definite feature; mean onset age of 2.3 years (range 1–3.5 years; Table 1). [academic.oup.com] Familial Infantile Myasthenia Onset of symptoms is at birth to early childhood with significant myasthenic weakness and possible respiratory distress, followed later in life by symptoms of mild to moderate [ncbi.nlm.nih.gov] ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. [ncbi.nlm.nih.gov] Diagnostic criteria ( 1 ) include an onset at birth to early childhood, with fluctuating ptosis, poor cry and suck, feeding difficulties and possible respiratory distress. [academic.oup.com] Blue Rubber Bleb Nevus Syndrome The lesions are often present from birth or early childhood[ 6, 7 ]. The onset of the disease could be traced in 68% (82/120) of the patients reviewed. [doi.org] The lesions are often present from birth or early childhood[6,7]. The onset of the disease could be traced in 68% (82/120) of the patients reviewed. [wjgnet.com] Epidemiology BRBNS primarily presents at birth or in infancy and early childhood, although later onset has been reported. [eyewiki.aao.org] Intestinal Infarction Although more common in early childhood, the age at onset of symptoms ranges from birth to the 6th decade. 1 The disease is classified into two types, type I (glycolic aciduria [jcp.bmj.com] Congenital Slow-Channel Myasthenic Syndrome Type 4A Diagnostic criteria ( 1 ) include an onset at birth to early childhood, with fluctuating ptosis, poor cry and suck, feeding difficulties and possible respiratory distress. [academic.oup.com] Onset of symptoms is at birth to early childhood with significant myasthenic weakness and possible respiratory distress, followed later in life by symptoms of mild to moderate [academic.oup.com] Autosomal Recessive Epidermolysis Bullosa Simplex Onset is usually at or shortly after birth although the skin blistering may not occur until late childhood or early adulthood. [skinawareness.org] A second form is Pretibial DDEB, onset early childhood, pretibial skin and dorsal feet are involved. Nails tend to be abnormal. [kissesforkatie.org] Onset of disease activity in EBS is usually at or shortly after birth, although patients with localized EBS may not develop blistering until late childhood or even early adulthood [ojrd.biomedcentral.com] Keratoconus onset myopia occurs in early childhood or teenage, and the ocular power can keep varying until the age of 21, before which any form of corrective surgery is usually not recommended [en.wikipedia.org] [edit] Myopia is sometimes classified by the age at onset:[49] Congenital myopia, also known as infantile myopia, is present at birth and persists through infancy.[38] Youth [en.wikipedia.org] […] detachments[52] and primary open angle glaucoma.[53] They are also more likely to experience floaters, shadow-like shapes which appear in the field of vision.[54] Age at onset [en.wikipedia.org] Growth Hormone Deficiency These are usually diagnosed at birth or in early childhood, but growth hormone deficiency is a lifelong condition and treatment may be needed in adult life (see the article [yourhormones.info] These are usually diagnosed at birth or in early childhood, but growth hormone deficiency is a lifelong condition and treatment may be needed in adult life too (see the article [yourhormones.info] […] on childhood-onset growth hormone deficiency). [yourhormones.info] Familial Interstitial Nephritis Hearing loss is never present at birth but usually becomes apparent by late childhood or early adolescence, generally before the onset of chronic kidney disease. [patient.info] Blue Nevus While lesions are often present from birth or early childhood, cases of adult-onset BRBNS have been reported. [acgcasereports.gi.org] Paroxysmal Kinesigenic Dyskinesia 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] Isolated Congenital Sclerocornea Primary glaucoma in children is generally divided based on age of onset into primary congenital glaucoma (PCG), from birth to early childhood, and juvenile primary open-angle [dovepress.com] Cystic Fibrosis Clinical description The disease is chronic and generally progressive, with onset usually occurring during early childhood or, occasionally, at birth (meconium ileus). [orpha.net] Dermatitis Medicamentosa Presentation: infantile: onset from birth to two years pruritus erythema and scaling of cheeks, sparing of perioral, perinasal areas may involve flexors and extensors childhood [derma.co.za] […] and adult phase evolving in early childhood pruritus erythema, scale, lichenification antecubital and popliteal fossae neck, eyelids, postauricular, wrists may become generalized [derma.co.za]
