Developmental Delay: Causes & Reasons

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Possible Causes for Developmental Delay

Developmental and Epileptic Encephalopathy Type 6

He presented with intractable and recurrent convulsions, global developmental delay and microcephaly. [ncbi.nlm.nih.gov]

A clear developmental delay begun before the age of 2 years in both children and the cognitive profile continued to worse, with some differences between different domains, [ncbi.nlm.nih.gov]

They analyzed the influence of age at seizure-onset and age at appearance of developmental delay, and compared their results in two subgroups of patients: those with and those [pediatricneurologybriefs.com]

Mucopolysaccharidosis

He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays. [ncbi.nlm.nih.gov]

Affected subjects present developmental delay, attention deficit disorder, uncontrollable hyperactivity, and aggressive behavior, followed by progressive dementia and death [ncbi.nlm.nih.gov]

delay, and an elevated quantitative urine glycosaminoglycan (GAG) level. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

delay, and intellectual disability. [symptoma.com]

In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. [hunterpatients.com]

In addition to developing somatic symptoms, patients having the neuronopathic form of the disease also display developmental delay and cognitive impairment in early childhood [touchneurology.com]

Aromatic L-Amino Acid Decarboxylase Deficiency

Aromatic L-amino acid decarboxylase deficiency Specialty Neurology Symptoms Dystonia, oculogyric crises, developmental delay, parkinsonism, dysautonomia Usual onset Infancy [en.wikipedia.org]

Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability. [ncbi.nlm.nih.gov]

Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. [ncbi.nlm.nih.gov]

Mucolipidosis

Both surviving children had severe global developmental delay at 2 months of age. [ncbi.nlm.nih.gov]

BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. [ncbi.nlm.nih.gov]

Clinicians should consider a ML4 diagnosis in mildly to moderately developmentally delayed children who have corneal clouding. [jnetics.org]

Kabuki Syndrome

Kabuki syndrome is a rare genetic disorder characterized by congenital anomalies and developmental delay. [ncbi.nlm.nih.gov]

Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic [ncbi.nlm.nih.gov]

delay, and finally by the confirmation of MLL2 mutations. [ncbi.nlm.nih.gov]

Tuberous Sclerosis

The condition can manifest in many ways, but the effects that most strongly impact quality of life are seizures, developmental delay, intellectual disability, and autism. [uabmedicine.org]

A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease. [dbpedia.org]

Mental Disability and Developmental Delay The following are all used to help those who have mental and developmental problems: special educational programs behavioral therapy [healthline.com]

Methylmalonic Acidemia

See a provider if your child has signs of failure-to-thrive or developmental delays. A low-protein diet can help reduce the number of acidemia attacks. [nlm.nih.gov]

Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. [ncbi.nlm.nih.gov]

Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. [ncbi.nlm.nih.gov]

Maple Syrup Urine Disease

Dietary compliance is necessary to prevent developmental delay and neurological symptoms. [patient.info]

Later in infancy or childhood, developmental delays are noted. [secure.ssa.gov]

Prognosis [ 2 ] Infants with untreated classic MSUD show significant developmental delay and die within the first months of life. [patient.info]

Mucopolysaccharidosis Type 1

Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition. [symptoma.com]

Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays. [integratedgenetics.com]

Those suffering from the most severe form of the disease, which may be referred to as Hurler syndrome, also show developmental delays and intellectual disability. [symptoma.com]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

delay encephalopathy feeding, protein aversion or intolerance liver failure liver involvement or dysfunction seizures spastic diplegia/quadriplegia/tetraplegia spastic paraplegia [metagene.de]

The clinical features are: (1) chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learning disabilities, cognitive deficits, and/or unexplained [accessanesthesiology.mhmedical.com]

Some children with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) have developmental delays. [babysfirsttest.org]

Classical Phenylketonuria

In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. [ncbi.nlm.nih.gov]

Prognosis Worsening intellectual disability and developmental delay in infancy and childhood if untreated. [patient.info]

When the disease has progressed beyond early developmental stage without detection, there may be delayed mental and social developments. [news-medical.net]

Noonan Syndrome

This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality. [ncbi.nlm.nih.gov]

Developmental delay of varying degrees, but usually mild. In males, undescended testes (cryptorchidism). How is Noonan syndrome diagnosed? [genome.gov]

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional [ncbi.nlm.nih.gov]

Triple A Syndrome

Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual [rarediseases.oscar.ncsu.edu]

In conclusion, triple A syndrome should be considered in patients presenting with early neurological dysfunction and developmental delay. [ncbi.nlm.nih.gov]

We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 7

Cataracts Clouding of the corneas Developmental delay Enlarged spleen and liver Joint stiffness Hearing loss Heart and lung complications Short stature How many people have [ultrarareadvocacy.com]

In more severe cases, there may be developmental delay. The severe form of MPS 7 can uniquely present at birth with hydrops fetalis (severe generalized edema). [ultragenyx.com]

He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. [ggc.org]

Mucopolysaccharidosis Type 3

It is characterized by behavioral changes, sleep disturbances and mental developmental delays. [icd10data.com]

Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays. [integratedgenetics.com]

Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances. [genedx.com]

Hereditary Orotic Aciduria

Failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue in patients who don't receive timely treatment with the pyrimidine precursor [symptoma.com]

delays. [en.wikipedia.org]

[…] abnormalities such as decreased white blood cell count, urinary tract obstruction due to the formation of orotic acid crystals in the urinary tract, failure to thrive, and developmental [specialtypharmacytimes.com]

Lenz-Majewski Syndrome

Delay CNS Tumor with Neuro Developmental Delay Cockayne syndrome Coffin Lowry syndrome Coffin Siris sydrome Cohen syndrome Cone Dystrophy Congenital Cytomegalovirus Congenital [de.slideshare.net]

MARINESCO-SJOGREN SYNDROME; MSS Is also known as ; Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Short stature [mendelian.co]

Developmental delay was present such as achieving social smile at 4 months and being unable to recognize her mother and not able to hold her neck till six months. [jpma.org.pk]

Fetal Alcohol Syndrome

DISCUSSION: The results demonstrate that children with FAS are as developmental delayed as PTBc+children. [ncbi.nlm.nih.gov]

We show that developmental ethanol exposure causes reduced viability, developmental delay and reduced adult body size. [ncbi.nlm.nih.gov]

This article reports a case of a 9-year-old adopted girl with developmental delay, mildly dysmorphic facial features, and behavioral and cognitive abnormalities. [ncbi.nlm.nih.gov]

Treacher-Collins Syndrome

CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. [ncbi.nlm.nih.gov]

He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. [ncbi.nlm.nih.gov]

delay, conductive hearing loss and speech delay. [ctgt.net]

Alpha-Mannosidosis

These disorders, although rare, should be considered in the approach to a child with dysmorphism, developmental delay, skeletal deformities, and visceromegaly. [ncbi.nlm.nih.gov]

Home Alpha-Mannosidosis Alpha-Mannosidosis Alpha-mannosidosis is an inherited disease characterized by developmental delays, facial and skeletal abnormalities, hearing loss [integratedgenetics.com]

delay and skeletal involvement (dysostosis multiplex). [ncbi.nlm.nih.gov]

Congenital Hypothyroidism

A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism. [ncbi.nlm.nih.gov]

A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem. [ncbi.nlm.nih.gov]

One of these infants had developmental delay despite rapid normalization of thyroid function postnatally. [ncbi.nlm.nih.gov]

Hereditary Orotic Aciduria without Megaloblastic Anemia

delays. [en.wikipedia.org]

Developmental delays may also be noted and may present as growth failure, mental retardation, or motor disorders such as ocular motor dyspraxia. [symptoma.com]

Pyrimidine 5′-nucleotidase superactivity has been described in four unrelated patients with developmental delay and neurologic abnormalities. [ommbid.mhmedical.com]

Trisomy 12p

delay. [karger.com]

delay with early hypotonia, psychomotor delay, and typical facial appearance. [moh-it.pure.elsevier.com]

Aradhya S, Manning MA, Splendore A, Cherry AM: Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental [karger.com]

Schindler Disease

What are some of the symptoms of developmental delay? You can identify developmental delay by the following symptoms. [humanbrainfacts.org]

Babies with this condition have severe developmental delay, hypotonia, and failure to thrive. [egl-eurofins.com]

delay www.ntsad.org Refum Disease, classic Phytanic acid oxidase AR childhood - adulthood normal intelligence www.ntsad.org Yes* = if affected family member is found. [ntsad.org]

Autosomal Recessive Osteopetrosis Type 7

delay Hydrocephalus Hypocalcemic seizures Motor delay Optic nerve compression Abnormality of the respiratory system Recurrent pneumonia Growth abnormality Growth delay IMPORTANT [ncbi.nlm.nih.gov]

Previously existing developmental delays and visual impairment, however, could not be reversed. [symptoma.com]

[…] system Abnormal trabecular bone morphology Generalized hypotonia Increased head circumference Multiple rib fractures Osteopetrosis Abnormality of the nervous system Global developmental [ncbi.nlm.nih.gov]

Achondroplasia

delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). [ncbi.nlm.nih.gov]

delay and acanthosis nigricans). [ncbi.nlm.nih.gov]

シソーラス検索結果同義語（異表記）： Achondroplasia chondrodysplasia SADDAN SADDAN Dysplasia Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Skeleton-Skin-Brain Syndrome [lsd-project.jp]

Wolman Disease

delay. [jewishgeneticdiseases.org]

Soon after, they develop signs and symptoms of the disease, which may include: Vomiting Diarrhea Poor weight gain Low muscle tone Developmental delay Enlarged liver and spleen [disabled-world.com]

delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. [ldnz.org.nz]

Duchenne Muscular Dystrophy

Tools and Resources for Patients and Families Does My Child Have Physical Developmental Delays? [aap.org]

Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf [ncbi.nlm.nih.gov]

The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures. [ncbi.nlm.nih.gov]

Arnold-Chiari Malformation

It is typically brought to light after a child begins exhibiting developmental delays and the parent seeks medical care. [neurosurgerycnj.com]

Developmental delays may require further medical follow up for underlying problems. [urmc.rochester.edu]

delays weak cry breathing problems The symptoms of Chiari malformation may resemble other conditions or medical problems. [web.archive.org]