Childhood Onset: Causes & Reasons

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Possible Causes for Childhood Onset

Muscular Dystrophy-Dystroglycanopathy Type C7

onset, resulting in gait abnormalities and scapular winging. [genecards.org]

Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth disease type 4D Childhood-onset [se-atlas.de]

Usually the more severe forms of EDMD with a childhood onset have missense mutations, whereas the milder LGMDIB is associated with het- erozygous truncating mutations: this [archive.org]

Limb-Girdle Muscular Dystrophy Type 2J

[…] dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Hereditary proximal myopathy with early respiratory failure Tibial muscular dystrophy Childhood-onset [csbg.cnb.csic.es]

The age of onset varies from subgroup to subgroup. Overall, onset is more common in childhood but it may even occur late in adult life. [rarediseases.org]

[…] autosomal recessive slowly progressive spinocerebellar ataxia Childhood-onset epilepsy syndrome Childhood-onset nemaline myopathy Childhood-onset spasticity with hyperglycinemia [se-atlas.de]

Paroxysmal Exertion-Induced Dyskinesia

onset GLUT1 deficiency syndrome type 2 Dystonia 18 Paroxysmal exertion-induced dyskinesia edit English childhood onset GLUT1 deficiency syndrome 2 Paroxysmal exertion-induced [wikidata.org]

Kertesz described a group of patients who primarily had a childhood onset of movement-induced paroxysmal choreoathetosis ( Kertesz 1967 ). [medlink.com]

GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia [genecards.org]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. [malacards.org]

Most patients are homozygous for the mutation with a phenotype characterized by a non-progressive myopathy with childhood onset of early fatigue, dyspnoea and palpitation [pubfacts.com]

[…] adult onset Hypertension early onset NR3C2, ADD2, CYP3A5, AGTR1, ATP1B1 etc. [centogene.com]

Autosomal Recessive Spastic Paraplegia Type 32

[…] nemaline myopathy Rare neurologic disease 3 0 0 Childhood-onset nemaline myopathy Rare neurologic disease 3 0 0 Childhood-onset nemaline myopathy Rare neurologic disease [mousebook.org]

Heritability: Autosomal recessive inheritance Clinical Modifiers: Slow progression, Childhood onset AKA: hereditary spastic paraplegia type 32, spastic paraplegia 32, autosomal [monarchinitiative.org]

SPG35 is characterized by childhood-onset gait impairment, spastic paraparesis, ataxia, and dystonia. [mdsabstracts.org]

Emery-Dreifuss Muscular Dystrophy Type 1

Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities [ajnr.org]

Em·er·y-Drei·fuss mus·cu·lar dys·tro·phy ( em'ĕr-ē drī'fŭs ), [MIM*310300] a generally benign type of muscular dystrophy, with onset in childhood or early adulthood. [medical-dictionary.thefreedictionary.com]

Rosales XQ, al-Dahhak R, Tsao CY (2012) Childhood Onset of Limb-Girdle Muscular Dystrophy. Pediatr Neurol 46:13-23. [omicsonline.org]

X-Linked Spastic Paraplegia Type 2

Kindreds with autosomal dominant HSP linked to 2p have exhibited (1) the prototypical adolescent- or adult-onset, progressive form and (2) the less common childhood-onset, [emedicine.medscape.com]

One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained [rarediseases.org]

For some childhood-onset forms, symptoms become apparent, gradually worsen during childhood, and then stabilize after adolescence. [sp-foundationorg.presencehost.net]

Lymphoproliferative Syndrome 1

We describe clinical course, morphological and histological features of XLP2 diagnosed in cases with childhood onset IBD. [ecco-ibd.eu]

onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease [rgd.mcw.edu]

onset of lymphadenopathy, splenomegaly, hypergammaglobulinemia, and autoimmune phenomena. [thedoctorsdoctor.com]

RAS-Associated Autoimmune Leukoproliferative Disease

Clinical description Age of onset of the clinical signs is invariably in infancy or early childhood. [orpha.net]

Autoimmune Polyendocrine Syndrome Type 1

[…] are total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset [medicinenet.com]

Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency [idref.fr]

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities [ajnr.org]

SYNE1 Childhood-Onset Multisystem Disease A rarer phenotype is childhood-onset complex and severe multisystem disease with ataxia, upper and lower motor neuron dysfunction [ncbi.nlm.nih.gov]

1.25) LGMD has varied onset and symptoms, although the autosomal recessive form is more common (childhood onset). [quizlet.com]

Autosomal Dominant Aplasia and Myelodysplasia

This diverse group of disorders is thought to be... more Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset [scinapse.io]

Death often occurs in childhood (summary by Walne et al., 2013 ). [mendelian.co]

Death often occurs in childhood (summary by Walne et al., 2013 ).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ( OMIM ). [mendelian.co]

Non-Dystrophic Myotonia

Childhood onset Children who have no problems at birth but who show symptoms in childhood may be described as having this form. [treat-nmd.org]

Five forms are currently recognized: congenital, early childhood, juvenile, adult-onset and late-onset. [orpha.net]

onset Symptoms begin in childhood 0011463 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 EMG: myotonic runs 0003730 Handgrip myotonia [rarediseases.info.nih.gov]

Autosomal Dominant Osteopetrosis Type 2

A milder, autosomal dominant form has onset in childhood and no neurologic sequelae. [medical-dictionary.thefreedictionary.com]

Symptom onset in childhood, recurrent fractures, vision loss and pancytopenia due to the progressive narrowing of cranial nerve foramina and medullary spaces, respectively [symptoma.com]

In rare cases, OPTA2 may manifest in childhood. [symptoma.com]

Hereditary Angioedema

It is a rare disorder with an onset during childhood in most instances. Therefore, familiarity with the options for the management of pediatric cases is indispensable. [ncbi.nlm.nih.gov]

Acquired form – onset occurs later Sex – M:F, equal Risk Factors Genetics Pressure applied to an extremity Stress Ingested estrogens, pregnancy Lymphoproliferative disorder [arupconsult.com]

(eg, Trichinella spp) Autoimmune conditions Laryngeal edema – peritonsillar abscess Background Epidemiology Incidence – 1/50,000 Age Congenital form – usually occurs in childhood [arupconsult.com]

Complement Factor I Deficiency

Parathyroid adenoma (Costa-Guda -2013 Horm Cancer 4 301)616910 CEBPE78.40.990.98Specific granule deficiency,245480 CECR1111.60.990.98Polyarteritis nodosa, childhood-onset, [qgenomics.com]

Combined Oxidative Phosphorylation Deficiency 15

Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]: An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset [genecards.org]

[…] transferase II deficiency, severe infantile form Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Cerebrotendinous xanthomatosis Childhood-onset [se-atlas.de]

[…] deafness Dusty cataract Dutch-Kentucky syndrome DWM with postaxial polydactyly Dyggve-Melchior-Clausen disease Dykes-Marks-Harper syndrome DYNC1H1-related autosomal dominant childhood-onset [orpha.net]

Progressive Familial Intrahepatic Cholestasis Type 4

PFIC-4 Overview Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition with early childhood onset of severe progressive liver disease. [checkorphan.org]

PFIC1 and PFIC2 manifest during infancy and progress to end-stage liver disease during early childhood, whereas the onset of PFIC3 is often delayed. [indianpediatrics.net]

An onset of illness during early childhood is associated with more severe disease. [depressionofspirits.com]

Acute Hepatic Porphyria

Most cases have a childhood or juvenile onset. [scielo.br]

Among homozygotes and compound heterozygotes, onset typically is in childhood, and symptoms are often severe. [msdmanuals.com]

Bi-allelic HMBS missense compound heterozygous pathogenic variants have also been associated with complex neurological phenotypes, including childhood-onset progressive spastic [scielo.br]

Camurati-Engelmann Syndrome

[…] hypoplasia Brachioskeletogenital syndrome PASLI disease Hemoglobin SC disease Chondrodysplasia punctata 2 X-linked dominant Hard skin syndrome Parana type Clouston syndrome Childhood-onset [checkrare.com]

The onset of the disease is in childhood and it usually progresses during the adolescence, but in adulthood its course may be stationary or slowly progressive. [elsevier.es]

Especially in childhood, it may present only with gait disturbances and muscle weakness, misleading doctors to consider neuromuscular disorders. [synapse.koreamed.org]

Persistent Polyclonal B-cell Lymphocytosis

[…] ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset citrullinemia type 1 Late-onset citrullinemia type I Late-onset distal crystallinopathy Late-onset [orpha.net]

Late infantile CACH syndrome Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late infantile NCL Late infantile neuronal ceroid lipofuscinosis Late-onset [orpha.net]

Aromatic L-Amino Acid Decarboxylase Deficiency

These disorders typically present in infancy or childhood, but later onset presentations have also been described. [invitae.com]

The onset of neurotransmitter disorders can occur at any age but most commonly in infancy and childhood. [tp.amegroups.com]

Congenital Dyserythropoietic Anemia Type 1B

Clinical description Onset of CDA generally occurs in childhood or early adulthood, even if clinical signs can occasionally be observed in the neonatal period. [orpha.net]

[…] erythropoiesis, typical morphological abnormalities of erythroblasts, low or no reticulocyte response, hyperbilirubinemia and splenomegaly. 3 CDA can be diagnosed in early childhood [annsaudimed.net]

The diagnosis of CDA is often made during childhood, though there is no age limit. [indianpediatrics.net]

Lipoid Proteinosis

Seizure onset may be in childhood or adulthood. [ncbi.nlm.nih.gov]

[…] encountered in early childhood. [ijdvl.com]

Onset of lipoid proteinosis is usually in early infancy, heralded by hoarseness of voice due to laryngeal infiltration. [4] This should alert the physician particularly when [ijdvl.com]

Platelet-Type Bleeding Disorder 17

It has an insidious onset, and a history of an antecedent infection need not be present. Unlike childhood ITP, chronic ITP is more common in females than in males. [emedicine.medscape.com]

Potassium-Aggravated Myotonia

childhood Both males and females may be affected The age of onset is in childhood, either in the neonatal period or infancy What are the Risk Factors for Potassium-Aggravated [dovemed.com]

The autosomal dominant MC, also called Thomsen disease, characteristically has an early onset (infancy to early childhood) while the recessively inherited form may have a [content.iospress.com]

Mandibuloacral Dysostosis

Familial hemophagocytic lymphohistiocytosis Fibronectin glomerulopathy Glycogen storage disease due to muscle glycogen phosphorylase deficiency Hepatocellular carcinoma, childhood-onset [csbg.cnb.csic.es]

onset Dilated cardiomyopathy Slow progression EMG: neuropathic changes Proximal muscle weakness Facial palsy Pes cavus Cardiomyopathy Tremor Gait disturbance Infantile onset [mendelian.co]

Downslanted palpebral fissures Fixed elbow flexion Distal muscle weakness Neck muscle weakness Short metacarpal Mildly elevated creatine phosphokinase Calf muscle hypertrophy Childhood [mendelian.co]

Senior-Boichis Syndrome

[…] ophthalmoplegia Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Childhood-onset hypophosphatasia Childhood-onset nemaline myopathy Childhood-onset [csbg.cnb.csic.es]

Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti, Murthy KR Rathmann M, Kumaramanickavel G, Denton MJ, Gal A: Mutations in RPE65 cause autosomal recessive childhood-onset [jasn.asnjournals.org]

Mycophenolate mofetil therapy for childhood-onset steroid dependent nephrotic syndrome after long-term cyclosporine : extended experience in a single center. [molcom.jp]

Labrune Syndrome

Hemiplegia of sudden onset and epileptic seizures are the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. [dial.uclouvain.be]

Manifestation is usually in childhood or adolescence, while onset in adulthood has been described in 19 cases. [pubfacts.com]

Its onset can occur during childhood or adolescence, in an average of 12 years (7 months – 59 years), but there was not one in adults in Brazil, with neurological signs such [scielo.br]

Pancytopenia - Developmental Delay Syndrome

Although most childhood-onset leukemias are thought to result from sporadic somatic genetic events, they have also been observed in individuals in the context of an expanding [clincancerres.aacrjournals.org]

ICD-9: 284 (Constitutional aplastic anemia); 287.33 ONSET AND PROGRESSION HHS usually presents in early childhood and primarily affects males (X-linked disorder). [secure.ssa.gov]

Syndromes predisposing to childhood-onset acute leukemia or BMF/MDS The Leukemia Predisposition Syndromes Syndromes in which leukemia occurs among a spectrum of other cancers [clincancerres.aacrjournals.org]