Onset in Infancy or Childhood: Causes & Reasons

Possible Causes for Onset in Infancy or Childhood

Dejerine-Sottas disease (DSD) was originally described as a hypertrophic polyneuropathy characterized by onset in infancy or early childhood in patients born to unaffected [ncbi.nlm.nih.gov]

[…] occurs in infancy or early childhood, usually before three years of age. [en.wikipedia.org]

[…] in infancy or childhood and is characterized by extremely slow nerve conduction velocities resulting in loss of ambulatory milestones and more generalized neurologic deficit [mayomedicallaboratories.com]

Niemann-Pick Disease Type B

Onset in infancy or childhood Variable phenotype More common in Ashkenazi Jews Allelic disorder to Niemann-Pick disease type A (MIM.257200) short stature (less common) cherry-red [humpath.com]

Onset is in infancy or childhood, but many patients survive into adulthood. Several specific variants have been associated with either type A or type B. [sema4genomics.com]

Inheritance: autosomal recessive Clinical features: (1) normal pregnancy and delivery (2) onset of illness during infancy or childhood (3) hepatosplenomegaly, resulting in [meducator3.net]

Autosomal Recessive Isolated Optic Atrophy

ORPHA:98676 Synonym(s): Autosomal recessive non-syndromic optic atrophy Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy, Childhood ICD-10: H47.2 [orpha.net]

Familial Cold Autoinflammatory Syndrome Type 1

Onset of fever and flares is often 1-3 hours after exposure to cold or cooling temperatures. [1] Age of onset: Infancy, but a few present with symptoms later in childhood [autoinflammatory-search.org]

Onset of FCAS occurs during infancy and early childhood and persists throughout the patient's life. [rarediseases.org]

[…] is typically in infancy or early childhood. [en.wikipedia.org]

Non-Dystrophic Myotonia

There are also less common forms of myotonic dystrophy with onset in infancy or childhood. [mda.org.au]

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]

while the remaining had childhood or adult onset symptoms. [frontiersin.org]

Muckle-Wells Syndrome

Random onset–flares of fever and symptoms are often triggered by cold or cooling temperature. [1] Age of onset: Infancy, but a few present with symptoms later in childhood [autoinflammatory-search.org]

The onset of MWS occurs in infancy or childhood. [symptoma.com]

[…] is typically in infancy or early childhood. [en.wikipedia.org]

Muscular Dystrophy-Dystroglycanopathy Type C3

Onset is during infancy or early childhood. Affected individuals display slowly progressive muscle weakness and most retain the ability to walk into late adolescence. [rarediseases.org]

Paramyotonia Congenita

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]

Onset in infancy or early childhood. Usually present with nonprogressive muscle stiffness. Muscle hypertrophy is common (Herculean). [slideplayer.com]

Inheritance: X-linked, autosomal recessive, autosomal dominant A boy with myotubular myopathy Onset: congenital (X-linked); infancy to early adulthood (autosomal recessive [web.archive.org]

Congenital Generalized Lipodystrophy Type 4

Table 1 Clinical Findings of the Major Lipodystrophy Subtypes CGL FPL AGL APL Age range of onset Infancy to early childhood Childhood through adulthood Childhood through adulthood [ncbi.nlm.nih.gov]

Less frequently, it is only recognized in the neonatal period, in infancy or in childhood, as has been shown in a recently published study: The mean age of patients at the [symptoma.com]

onset of fat loss has been reported to be 0.3 months, with a range of from birth to 12 years. [symptoma.com]

Hereditary Hypophosphatemic Rickets with Hypercalciuria

Age of onset is in infancy or early childhood. [preventiongenetics.com]

Neuhauser Eichner Opitz Syndrome

- Age of onset: Infancy, Childhood ICD-10: - OMIM: 130950 UMLS: C1851708 MeSH: C536407 GARD: 3949 MedDRA: - Summary An Orphanet summary for this disease is currently under [orpha.net]

Homepage Rare diseases Search Search for a rare disease Neuhauser-Eichner-Opitz syndrome ORPHA:2672 Synonym(s): Recurrent encephalophathy of childhood Prevalence: Inheritance [orpha.net]

Liver Phosphorylase Kinase Deficiency

Infancy or childhood Clinical features: In type IIIa, liver and muscle involvement with features of type Ia and II In type IIIb, only liver involvement plus features of [merckmanuals.com]

[…] death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult [sandwalk.blogspot.com]

Early infancy; rarely, the neonatal period, late childhood, or adulthood (manifesting as a variant nonprogressive or a neuromuscular form) Clinical features: Hepatomegaly [merckmanuals.com]

Myopathy with Lactic Acidosis and Sideroblastic Anemia Type 2

Onset of clinical symptoms is in infancy or childhood. [sema4genomics.com]

One case had weekly fevers in infancy, that become bi-monthly in childhood. [autoinflammatory-search.org]

The mutations in nuclear encoded subunits identified so far, are mainly abnormalities of complex I found in patients with- infancy or childhood-onset, even if also mutations [mitopedia.org]

CAPOS Syndrome

The onset of symptoms typically starts from infancy or early childhood with mean age of onset at 2.5 year (range: 6 months to 37 years).[5] Most of the episodes induced by [ncbi.nlm.nih.gov]

and rapid-onset dystonia- Parkinsonism More Details.[2],[3] Demos et al.[4] reported the largest series of 10 patients from three different families. [annalsofian.org]

[…] is typically in infancy or early childhood. [en.wikipedia.org]

Spondylometaphyseal Dysplasia with Combined Immunodeficiency

Onset of symptoms in infancy, childhood or adolescence. [108] [109] Skin cutaneous: Hyperpigmented macules, vitiligo. [autoinflammatory-search.org]

The neonatal course and overall health during infancy and childhood had been excellent for both siblings other than the onset of progressive postnatal growth failure with [karger.com]

Frequency: Unknown-rare Timing of symptoms: Recurrent respiratory infections, bone and cartilage deformities, low-set ears, pointy nose noted early in life. [108] [109] Age of onset [autoinflammatory-search.org]

Early-Onset Spastic Ataxia - Neuropathy Syndrome

Marinesco-Sjögren syndrome: Marinesco-Sjögren syndrome is a rare disorder with onset in infancy or childhood. [wjgnet.com]

This is an early-onset ataxia, manifesting in infancy or early childhood, with a high prevalence in the Charlevoix-Saguenay region of northeastern Quebec. [emedicine.medscape.com]

A number of people initially develop symptoms that start as early as infancy or early childhood, although symptoms may begin as late as the person's eighties or nineties. [disabled-world.com]

Neuroectodermal Melanolysosomal Disease

Infancy/early childhood Infancy/early childhood Infancy/early childhood Inheritance Autosomal recessive Autosomal recessive Autosomal recessive Melanin in hair Small clumps [eyewiki.aao.org]

[…] of Syndromes with Silvery Hair Table: Differentiation of Syndromes with Silvery Hair (adopted from Cahali 2004 ) Characteristics Chediak-Higashi Griscelli Elejalde Age at Onset [eyewiki.aao.org]

Aicardi-Goutières Syndrome Type 6

Penetrance is variable as is the age of clinical onset; most occur within the first year of life (3-7 months is typical) although delayed onset in later childhood is reported [radiopaedia.org]

The majority, however, present with both physical and intellectual disabilities in infancy after a period of apparently normal development (often only lasting a few weeks) [radiopaedia.org]

Aicardi-Goutières Syndrome Type 7

Penetrance is variable as is the age of clinical onset; most occur within the first year of life (3-7 months is typical) although delayed onset in later childhood is reported [radiopaedia.org]

The majority, however, present with both physical and intellectual disabilities in infancy after a period of apparently normal development (often only lasting a few weeks) [radiopaedia.org]

Griscelli Syndrome Type 1

Infancy/early childhood Infancy/early childhood Infancy/early childhood Inheritance Autosomal recessive Autosomal recessive Autosomal recessive Melanin in hair Small clumps [eyewiki.aao.org]

Familial Congenital Mirror Movements Type 2

Although the family described in this study shares some similarities with previously reported families, including onset in infancy or early childhood, predominance in the [movementdisorders.org]

Severe Infantile Carnitine Palmitoyl Transferase II Deficiency

Clinical While the metabolic defect is present at birth, initial symptoms of homocystinuria usually have onset later in infancy and childhood. [genico.ch]

Those patients with symptoms have tended to display developmental delay, seizure disorder, or progressive muscle weakness in infancy and childhood. [genico.ch]

It is possible that some patients may have escaped onset of symptoms because they were not subjected to a metabolic stress. [genico.ch]

Immunodeficiency Type 31C

Age CMC usually manifests in infancy or early childhood (60-80% of cases), with a mean age of onset of 3 years. [emedicine.medscape.com]

Infantile Myofibromatosis Type 2

More than 90% of cases have onset in infancy, although the disorder can first present later in childhood or less often in adults. [rarediseases.org]

We present a case of IMF in two siblings with onset of disease in late childhood. [thedoctorsdoctor.com]

131-8 Abstract quote Infantile myofibromatosis (IMF) is a distinct clinicopathologic entity characterized by solitary or multicentric tumors present at birth or in early infancy [thedoctorsdoctor.com]

Griscelli Syndrome Type 2

0003819 Hemophagocytosis 0012156 Hypopigmentation of the skin Patchy lightened skin 0001010 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 [rarediseases.info.nih.gov]

[…] abnormalities Cerebellar abnormality Cerebellar anomaly [ more ] 0001317 Accumulation of melanosomes in melanocytes 0001008 Autosomal recessive inheritance 0000007 Death in childhood [rarediseases.info.nih.gov]

Coats Plus Syndrome

Publication Date 9-21-2022 Abstract Purpose: To describe a case of Coats Plus Syndrome (CPS), a vision and life threatening disease belonging to a family of diseases known as the Telomere Biology Disorders. Observations: A 15-year-old girl with a history of small for gestational age, short stature, microcephaly,[…] [jdc.jefferson.edu]

Exudative Vitreoretinopathy Type 2

Posted by on Apr 27, 2016 in Familial Exsudative Vitreoretinopathy | Comments Off on Cases of Familial Exudative Vitreoretinopathy (FEVR) SCIENTIFIC POSTER 2016_Cases of Familial Exudative Vitreoretinopathy (FEVR) Young Joon Jo Purpose: To report the sporadic cases of Familial exudative vitreoretinopathy (FEVR) and[…] [evrs.eu]

Rotor Syndrome

Hum Mutat. 2015 Mar;36(3):327-32. doi: 10.1002/humu.22745. Kagawa T 1, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Wang T, Tanaka M, Hayashi H, Kawabe N, Robinson PN, Zemojtel T, Mine T. Author information 1 Division of[…] [ncbi.nlm.nih.gov]

Autoimmune Lymphoproliferative Syndrome Type 3

Autoimmune lymphoproliferative syndrome type 3 (PRKCD) DNA Test Leave Message Reporting Time: 5 Week Test Cost: 19000.00 /- Rs Sample Type: EDTA blood or DNA Autoimmune lymphoproliferative syndrome type 3 (PRKCD) Test Description Autoimmune lymphoproliferative syndrome type 3 (PRKCD) Autoimmune[…] [dnalabsindia.com]

Paroxysmal Non-Kinesigenic Dyskinesia

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent[…] [ncbi.nlm.nih.gov]