Death in Childhood: Causes & Reasons

Possible Causes for Death in Childhood

Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. [orpha.net]

The primary cause of death in HHS is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant. [checkorphan.org]

Definition A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood [uniprot.org]

Bullous Dystrophy Type Macular

Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death [mousephenotype.org]

[…] in childhood 0003819 Hyperpigmentation of the skin Patchy darkened skin 0000953 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 [rarediseases.info.nih.gov]

[…] in childhood; Hyperpigmentation of the skin; Intellectual disability; Microcephaly; Severe short stature; Short finger; Tapered finger; X-linked inheritance Associated Genes [mousephenotype.org]

Neonatal Adrenoleukodystrophy

Childhood ALD is progressive and usually leads to total disability or death. It affects only boys because the genetic defect is sex-linked (carried on the X chromosome). [medical-dictionary.thefreedictionary.com]

This form of ALD usually progresses rapidly, causes neurodegeneration, and results in death in infancy or young childhood. [healthinhandorganics.com]

There are three basic forms of ALD: childhood, adult-onset, and neonatal. The childhood form of the disease is the classical form and is the most severe. [medical-dictionary.thefreedictionary.com]

Congenital Craniosynostosis - Maternal Hyperthyroiditis

Adrenal insufficiency: Still a cause of morbidity and death in childhood. [link.springer.com]

Early-Onset Myopathy with Fatal Cardiomyopathy

[…] onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. [orpha.net]

Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life. [orpha.net]

[…] delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood [orpha.net]

Conjugated Hyperbilirubinemia Type 3

CNS type I, in which the body produces no, or very little, UGT is much more severe and can result in death in early childhood. [liverfoundation.org]

Cephalin Lipidosis

Sudden Death During Childhood With Xanthoma Tuberosum. Review of Literature And Report of A Case. J.A.M.A. 1950; 142: 1268 Google Scholar Weidman F.D. Boston L.N. [gastrojournal.org]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 3

[…] in childhood. [go.gale.com]

Email Twitter Facebook More Abstract Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death [academic.oup.com]

Document controls Main content Abstract : Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death [go.gale.com]

Extracranial Neuroblastoma

ABSTRACT : Neuroblastoma is the most common extracranial solid tumor in childhood and accounts for 15% of deaths from pediatric cancer in patients under 15 years of age worldwide [repositorio.unican.es]

Gustavson Syndrome

[…] in infancy or early childhood. [internetaraclari.com]

[…] microcephaly, optic atrophy with severely impaired vision or blindness, severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death [internetaraclari.com]

X-Linked Neurodegenerative Syndrome Type Hamel

[…] in childhood. [zenodo.org]

[…] characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death [zenodo.org]

Crigler-Najjar Syndrome Type 2

If not treated, this severe form of the disease will lead to death in childhood. [mountsinai.org]

CNS type I, in which the body produces no, or very little, UGT is much more severe and can result in death in early childhood. [liverfoundation.org]

Johanson-Blizzard Syndrome

[…] in childhood 0003819 Dilatation Wider than typical opening or gap 0002617 Fair hair Blond hair Fair hair color Flaxen hair color Light colored hair Sandy hair color Straw [rarediseases.info.nih.gov]

[…] nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Death [rarediseases.info.nih.gov]

Mucolipidosis Type 2

[…] in early childhood. [moh-it.pure.elsevier.com]

[…] in childhood, Thoracolumbar kyphoscoliosis, Sparse and thin eyebrow, Heart murmur, Varus deformity of humeral neck, Recurrent pneumonia, Wide intermamillary distance, Severe [fdna.health]

[…] coarse facial features, cessation of statural growth and neuromotor development, severe skeletal abnormalities, organomegaly, and cardiorespiratory insufficiency leading to death [moh-it.pure.elsevier.com]

Mucopolysaccharidosis Type 1 H

The disease process usually results in death during childhood from cardiac complications or pulmonary disorders. Also called gargoylism, lipochondrodystrophy, MPS I. [medical-dictionary.thefreedictionary.com]

The sugar buildup results in progressive organ deterioration and death in childhood. [futurity.org]

X-linked Distal Spinal Muscular Atrophy Type 3

[…] in early childhood. [abcam.com]

Adults with SMA Edit Although SMA often results in death during childhood, some people with SMA survive into adulthood and even old age. [psychology.wikia.com]

[…] connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death [abcam.com]

Neuronal Ceroid Lipofuscinosis Type 5

usually in childhood. [radiopaedia.org]

Age of death ranges from childhood to adulthood. [ncbi.nlm.nih.gov]

Generally, the increased risk for early death depends on the form of the disease and age of the child at disease onset. [ninds.nih.gov]

Ankyloblepharon Filiforme Adnatum - Imperforate Anus

ORPHA:96149 Developmental And Epileptic Encephalopathy 89 Cleft palate, Death in childhood, Long philtrum, Neonatal death, Hypoplastic labia minora, Clitor... [mousephenotype.org]

Systemic features include motor and mental deterioration with spasticity, paralysis, seizures, dementia, death in early childhood, although attenuated and adult forms of the [eophtha.com]

ORPHA:228308 Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 Hypospadias, Death in childhood, Long philtrum, Neonatal death, 3-Methylglutaconic aciduria, [mousephenotype.org]

Autosomal Recessive Primary Microcephaly Type 10

[…] in childhood Hemiplegia Poor head control Delayed myelination Slow progression Athetosis Hepatosplenomegaly Muscular hypotonia of the trunk Elevated hepatic transaminase [mendelian.co]

death. [mendelian.co]

Acrania Thrombocytopenia Focal white matter lesions Abnormality of metabolism/homeostasis Sensorineural hearing impairment Poor speech Ataxia CSF lymphocytic pleiocytosis Death [mendelian.co]

Congenital Bile Acid Synthesis Defect Type 2

If left untreated, this disease can lead to cirrhosis and death in childhood. [ivami.com]

If left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood. [ghr.nlm.nih.gov]

If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood. [malacards.org]

Tay-Sachs Disease

The classic type causes death in childhood, but some forms do not appear until adulthood and do not lead to early death. [snpedia.com]

[…] in early childhood — called also Tay-Sachs First Known Use of Tay-Sachs disease 1907, in the meaning defined above History and Etymology for Tay-Sachs disease Warren Tay [merriam-webster.com]

Abstract Tay-Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. [ncbi.nlm.nih.gov]

Aicardi-Goutières Syndrome Type 1

Death often occurs in early childhood. [malacards.org]

Signs and symptoms[edit] The initial description of AGS suggested that the disease was always severe, and was associated with unremitting neurological decline, resulting in death [en.wikipedia.org]

Early death occurs in childhood in some patients (approximately 20%); however, most patients (approximately 70% to 75%) survive after the initial regression episode without [medlink.com]

Cerebro-Oculo-Facio-Skeletal Syndrome

Delayed mental development and early death in childhood have limited full delineation of the ocular phenotype. [disorders.eyes.arizona.edu]

[…] in childhood. [academic.oup.com]

Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. [genome.jp]

Central Adrenal Insufficiency

[…] in childhood (Shulman 2007). [cochranelibrary.com]

[…] resulting in reduced adrenal cortisol production represents an impaired stress response and an inadequate host defence against infection and remains a cause of morbidity and death [cochranelibrary.com]

Dihydrolipoyl Dehydrogenase Deficiency

The clinical presentation includes severe hypotonia, metabolic acidosis, congenital lactic acidosis, early childhood death. [accessanesthesiology.mhmedical.com]

Death is caused by neurologic deterioration. Other clinical features include axial hypotonia with no head control until late in childhood. [accessanesthesiology.mhmedical.com]

Glycogen Storage Disease Type 4

[…] in childhood from liver cirrhosis Glycogen Storage Disease Type V (McArdle Disease) Muscle Phosphorylase deficiency Findings: 1) Exercise intolerance 2) Muscle cramps 3) [quizlet.com]

The disease then rapidly progresses to cirrhosis with portal hypertension and ascites, ultimately causing death in early childhood. [orpha.net]

15% of all cases & is liver only Glycogen Storage Disease Type IV (Anderson Disease/Amylopectinosis) Branching enzyme deficiency Findings: 1) Progressive hepatomegaly 2) Death [quizlet.com]

AMACR Deficiency

If left untreated, this disease can lead to cirrhosis and death in childhood. [ivami.com]

If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood. [ghr.nlm.nih.gov]

Griscelli Syndrome

At a glance Griscelli Syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency that usually causes death by early childhood. [accessanesthesiology.mhmedical.com]

0002220 Percent of people who have these symptoms is not available through HPO Accumulation of melanosomes in melanocytes 0001008 Autosomal recessive inheritance 0000007 Death [rarediseases.info.nih.gov]

The prognosis of GS2 is poor, with death in early childhood due to HLH and its complications. [cdriadvlkn.org]

Combined Exocrine Pancreatic Insufficiency

Molybdenum Cofactor Deficiency Type B

It is an autosomal recessive trait and leads to early childhood death. [ncbi.nlm.nih.gov]

death. [mybiosource.com]

[…] autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood [mybiosource.com]