Onset at Birth or in Early Childhood: Causes & Reasons

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Possible Causes for Onset at Birth or in Early Childhood

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]

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]

[…] 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]

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]

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]

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]

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]

Congenital Generalized Fibromatosis

Congenital fibromatosis is a rare form of fibroblastic proliferation, which may appear similar to fibrosarcoma; it is multicentric, involving soft tissues, viscera, and bones. The larger soft tissue tumors are very hemorrhagic and necrotic, and they may contain calcifications. Because these characteristics are also[…] [ncbi.nlm.nih.gov]

Cone Rod Dystrophy Type 5

Early onset retinitis pigmentosa and Leber congenital amaurosis, once considered distinct entities by virtue of age of onset, at birth and within early childhood, respectively [medscape.com]

onset forms (i.e., which are either consistently severe from birth with little progression thereafter or that consistently develop in childhood and evolve rapidly toward [medscape.com]

onset retinitis pigmentosa and Leber congenital amaurosis have had very poor vision since birth, with roving nystagmus either present at birth or developing later. [medscape.com]

Cone Rod Dystrophy Type 16

onset forms (i.e., which are either consistently severe from birth with little progression thereafter or that consistently develop in childhood and evolve rapidly toward [medscape.com]

onset retinitis pigmentosa and Leber congenital amaurosis have had very poor vision since birth, with roving nystagmus either present at birth or developing later. [medscape.com]

Cone-Rod Dystrophy

In stationary cone dystrophy symptoms tend to remain stable and are usually present at birth or early childhood. [rarediseases.org]

onset forms (i.e., which are either consistently severe from birth with little progression thereafter or that consistently develop in childhood and evolve rapidly toward [medscape.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]

Epidermolysis Bullosa Simplex Type Cockayne-Touraine

The onset of dystrophic epidermolysis bullosa is at birth or early childhood. The onset of Kindler syndrome is usually within the first year of life. [thehealthscience.com]

A second form is Pretibial DDEB, onset early childhood, pretibial skin and dorsal feet are involved. Nails tend to be abnormal. [kissesforkatie.org]

Age The onset of epidermolysis bullosa simplex is at birth or early infancy. The onset of junctional epidermolysis bullosa is at birth. [thehealthscience.com]

Nemaline Myopathy Type 8

The typical presentation of this congenital myopathy is in an autosomal dominant fashion with onset at birth or early childhood. [emedicine.medscape.com]

When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at birth or beginning in early childhood. [medlineplus.gov]

[…] weakness at early childhood in the mild childhood and rapidly progressive disease course in the adult onset type. [spandidos-publications.com]

Nemaline Myopathy Type 4

The onset of symptoms was birth to early childhood. [aanem.org]

Sporadic late onset nemaline myopathy (SLONM) is not a congenital disorder and is considered a different muscle disease from NM, which has its onset at birth or early childhood [en.wikipedia.org]

Cockayne Syndrome

Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum [connects.catalyst.harvard.edu]

XP) is late childhood onset with mild symptoms., Caused by mutations of gene CKN1., An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. [ebi.ac.uk]

XP) is late childhood onset with mild symptoms. [connects.catalyst.harvard.edu]

Emery-Dreifuss Muscular Dystrophy Type 2

[…] at birth, infancy or early childhood Dislocation of hips is common Goal of Management in CMD encourage mobility & avoid immobilization that supports fixed deformity Goal [quizlet.com]

[…] conduction defects,etc.) 75% patients have EKG abnormailties Goal of Management in BMD keep patient in good respiratory health variable sucking & swallowing, fixed deformities Onset [quizlet.com]

[…] of Management in FSHMD X-linked MD w/ an Onset of late childhood, adolescence, adult Facial weakness- can't whistle, Shoulder girdle weakness, & Variable hearing loss Fascioscapulohumeral [quizlet.com]

Congenital Generalized Lipodystrophy Type 1

As mentioned previously, disease onset is at birth or during early childhood. 2.6 Negative clinical predictive value ( probability of not developing the disease if the test [nature.com]

As mentioned previously, disease onset is at birth or during early childhood. 2.6 Negative clinical predictive value (probability of not developing the disease if the test [nature.com]

Autosomal Recessive Centronuclear Myopathy

The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). [ncbi.nlm.nih.gov]

(a) Infantile: birth or within first year (b) Childhood (c) Adult (3) Inheritance (a) AR, NEM2, and other (b) AD, NEM1, and other (B) Laboratoryfindings (1) CK normal or [zdoc.site]

The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. [ncbi.nlm.nih.gov]

Weismann-Netter Syndrome

The age of onset can be at birth or not until early childhood. It primarily affects long bones and cartilage. [accessanesthesiology.mhmedical.com]

Bartter Syndrome

[…] and a somewhat less severe form with onset during early childhood. [merriam-webster.com]

The other form, often called the classical form, begins in early childhood and tends to be less severe. [ghr.nlm.nih.gov]

[…] and early childhood: Failure to grow and gain weight in an age appropriate manner Increased urine production and frequent urination Loss of salt in urine with resultant dehydration [dovemed.com]

Sarcotubular Myopathy

 Onset is at birth or in early childhood  Nonprogressive limb weakness, mild facial weakness, and hypotonia.  Skeletal abnormalities include congenital hip dislocation [slideshare.net]

Peeling Skin Syndrome Type 1

Age of onset varied from birth to early childhood (Mean 5.25 ± 4.528 years). Age at presentation ranged from 7-35 years (23.25 ± 10.471 years). [ijdvl.com]

Generalized noninflammatory/Type A PSS: Onset of type A PSS also presents shortly after birth or in early childhood. [dermatologyadvisor.com]

Alport Syndrome

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]

Hearing loss is never present at birth but becomes apparent by late childhood or early adolescence, generally before the onset of kidney failure. [alportsyndrome.org]

Pompe Disease

[…] by one year of age; occurs in 1 in 57,000 births late onset: manifests in early or late childhood, adolescence or adulthood Almost equal cases of male and female patients [radiopaedia.org]

The late-onset definition includes childhood, juvenile, and adult. Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. [emedicine.medscape.com]

There are three major forms of Pompe disease: infantile-onset: manifests within a few months of birth; occurs in 1 in 138,000 live births non-classic infantile-onset: manifests [radiopaedia.org]

Nemaline Myopathy Type 7

There is a juvenile onset form of the condition. CONGENITAL MYASTHENIC SYNDROMES Age of onset: birth or early childhood. [mda.org.au]

Aspermia

From birth through early childhood, the testes naturally do not produce sperm. [encyclopedia.com]

After the onset of puberty during adolescence, the sperm-producing cells of the testes normally become active, and remain active throughout most of adulthood. [encyclopedia.com]

Klippel-Trenaunay-Weber Syndrome

Onset usually occurs before birth or during early childhood. synonyms Klippel-Trenaunay-Weber Syndrome, Hemangiectasia Hypertrophicans, Nevus Varicosus Osteohypertrophicus [dermis.net]

Usher Syndrome Type 1J

The vision loss is gradual, with onset of symptoms typically occurring in mid-childhood to early adulthood. [ohsu.edu]

People with Usher type 1 develop profound deafness from birth and early childhood symptoms of RP. [fightingblindness.ie]

The hearing loss in Usher syndrome is usually congenital, meaning present from birth. [ohsu.edu]

Peeling Skin Syndrome Type 3

Age of onset varied from birth to early childhood (Mean 5.25 ± 4.528 years). Age at presentation ranged from 7-35 years (23.25 ± 10.471 years). [ijdvl.com]

Generalized noninflammatory/Type A PSS: Onset of type A PSS also presents shortly after birth or in early childhood. [dermatologyadvisor.com]

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

[…] at birth, infancy or early childhood Dislocation of hips is common Goal of Management in CMD encourage mobility & avoid immobilization that supports fixed deformity Goal [quizlet.com]