Delayed Milestone: Causes & Reasons

Possible Causes for Delayed Milestone

[…] developmental milestones, and spinal stenosis (narrowing of the open spaces within the spine). [paleyinstitute.org]

Motor development of the child is delayed. Milestones such as head control and independent sitting, standing, and ambulation may get delayed by as much as by 6 months. [boneandspine.com]

[…] developmental milestones such as walking (which may occur between 18 to 24 months) What causes achondroplasia? [childrenshospital.org]

Aromatic L-Amino Acid Decarboxylase Deficiency

[…] development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the [rarediseases.oscar.ncsu.edu]

Symptoms may include severe delay in reaching milestones such as walking and talking (developmental delay), weak muscle tone (hypotonia), muscle stiffness, difficulty moving [rareguru.com]

AADC-d results in delays or failure to reach developmental milestones such as head control, sitting, and standing and walking. [ajmc.com]

Duchenne Muscular Dystrophy

Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay. [orpha.net]

All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed. [patient.info]

delay. [patient.info]

Prader-Willi Syndrome

Delays in milestones. Difficulty with physical coordination. Excessive sleeping or sleep disorders. Excessive weight gain, overeating or obesity. Extreme flexibility. [gillettechildrens.org]

[…] developmental motor milestones Delayed onset of speech Thick saliva Weak cry Excessive sleeping Hypotonia Lethargy Short stature Light colored hair Small hands and feet Skin [symptoma.com]

milestones. [primarycare.imedpub.com]

Noonan Syndrome

Delayed milestones (predicted by feeding difficulty). Average age to walk is 21 months. [pedclerk.bsd.uchicago.edu]

milestones Mean age sitting 10 mth, walking 21 mth, two-word sentence 31 mth 10-15 % require special ed IQ usually within normal range, but mild MR seen in 1/3 Verbal lower [en.wikibooks.org]

Some children with Noonan syndrome can have delayed milestones or learning difficulties. However, when recognized early, they respond well to additional support. [aboutkidshealth.ca]

Intellectual Disability

In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking. [differencebetween.net]

milestones, especially language development Behavioral phenotype may also aid diagnosis as course evolves Cytogenetic studies; brain imaging; metabolic studies Will vary [aafp.org]

Unknown cause of MR 30 to 50% of all cases of MR Variable; diagnosis may evolve over time, so repeated evaluations may be helpful Nonspecific cluster of minor malformations; delayed [aafp.org]

Niemann-Pick Disease Type C

[…] development milestones childhood presentation: ataxia, falls, poor school performance adolescent and adult presentation: psychiatric illnesses, ataxia Radiographic features [radiopaedia.org]

Neurological symptoms were generally more common in NP-C cases >4years of age than in younger patients, with the exception of hypotonia and delayed developmental milestones [ncbi.nlm.nih.gov]

Cognitive impairment may range from a delay in developmental milestones to mental retardation. [hindawi.com]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Patients present clinically with vomiting, lethargy, impaired growth and delayed developmental milestones. [journals.lww.com]

Developmental milestones are typically delayed. Growth may be retarded. [emedicine.medscape.com]

Velocardiofacial Syndrome

Delays in reaching infant milestones like sitting up or rolling over Speech or motor development delays. [syndromepictures.com]

Many infants present with generalized hypotonia and delayed milestones. There are psychological consequences with the reduction of full-scale intelligence quotient. [clinicaladvisor.com]

[…] up or other infant milestones Delayed speech development or nasal-sounding speech Learning delays or disabilities Behavior problems When to see a doctor Other conditions [mayoclinic.org]

Mucopolysaccharidosis Type 1S

She had delayed motor milestones, was able to walk independently, was speaking short sentences, and was playful. [neurologyindia.com]

Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking [rarediseases.org]

Some children with mucopolysaccharidosis type I (MPS I) have developmental delays. [babysfirsttest.org]

Propionic Acidemia

At 3 years of age, neurodevelopment showed globally delayed milestones. [ncbi.nlm.nih.gov]

Some children with propionic acidemia (PROP) have developmental delays. [babysfirsttest.org]

If you think that your baby is not meeting their developmental milestones, ask your baby’s health care provider about the next steps in accessing a developmental evaluation [babysfirsttest.org]

Pompe Disease

The main clinical findings include floppy baby appearance, delayed motor milestones and feeding difficulties. Moderate hepatomegaly may be present. [en.wikipedia.org]

[…] motor milestones Progressive proximal muscle weakness (esp. trunk and lower limbs) Gait abnormalities Muscle pain Difficulty climbing stairs Frequent falls Scapular winging [cuh.nhs.uk]

Macroglossia, mild hepatomegaly, feeding difficulties, and significantly delayed motor milestones are also typical manifestations of this rapidly progressive form; most patients [ncbi.nlm.nih.gov]

Mucopolysaccharidosis

However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to [thinkgenetic.com]

Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking [rarediseases.org]

CHARGE Syndrome

Developmental delay – Delayed motor milestones, language delay, mental retardation Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive [ncbi.nlm.nih.gov]

self-image Growth deficiency Growth deficiencies – Short stature Borderline growth hormone (GH) stimulation tests Growth hormone (GH) replacement Obesity Developmental delay [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 3

[…] developmental milestones and a plateau in development, followed by progressive and inexorable regression. [rheumatology.oxfordjournals.org]

Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking [rarediseases.org]

At diagnosis, speech development is generally much more delayed than motor development. [oapublishinglondon.com]

Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

Some children with LCHAD have developmental delays. [babysfirsttest.org]

Symptoms are progressive spastic paraplegia, failure to thrive, delayed milestones, hyperactivity and irritability, with episodic vomiting, hyperammonemia and seizures. [genico.ch]

If you think that your baby is not meeting their developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care. [babysfirsttest.org]

Roifman Syndrome

[…] involves a chronological delay in the appearance of normal developmental milestones achieved during infancy and early childhood. [maxcachiafund.org]

Most children have normal intelligence but approximately 20 percent of those affected may have intellectual disability, delays in reaching developmental milestones, and/or [rarediseases.org]

In Roifman's syndrome these abnormities include premature birth, delayed sitting/walking and decreased head circumference. [maxcachiafund.org]

Mucopolysaccharidosis Type 1 H

According to the parents, all her milestones were delayed. [dx.doi.org]

Some children with mucopolysaccharidosis type I (MPS I) have developmental delays. [babysfirsttest.org]

If you think that your baby is not meeting their developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care. [babysfirsttest.org]

Mucopolysaccharidosis Type 1

[…] developmental milestones and a plateau in development, followed by progressive and inexorable regression. [rheumatology.oxfordjournals.org]

Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking [rarediseases.org]

Some children with mucopolysaccharidosis type I (MPS I) have developmental delays. [babysfirsttest.org]

Trisomy 21

One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. 1 Another study [nichd.nih.gov]

If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, crawling and walking. [marchofdimes.org]

Babies with Down syndrome may reach developmental milestones later than other babies. [marchofdimes.org]

Medium Chain Acyl CoA Dehydrogenase Deficiency

Survivors remain asymptomatic between episodes but may have delayed achievement of developmental milestones and are more likely to have reduced exercise tolerance, fatigue [ispub.com]

Some children who experience severe symptoms from untreated medium-chain acyl-CoA dehydrogenase deficiency (MCAD) may have developmental delays. [babysfirsttest.org]

If you think that your baby is not meeting his or her developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care [babysfirsttest.org]

Singleton Merten Syndrome

Notably, developmental milestones are usually timely although mild cognitive delays are rarely seen and speech may be delayed. Inguinal hernias are part of the syndrome. [disorders.eyes.arizona.edu]

Teeth are late to erupt and bone age is delayed with shortness of stature the final result in many cases. Joints are often hyperextensible. [disorders.eyes.arizona.edu]

Alpha-Mannosidosis

Mental and motor development is delayed, but in this context, the progressive course of AM has to be considered: Affected children often appear clumsy, and milestones in speech [symptoma.com]

Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

Of the few cases reported, one 3-year-old boy with delayed psychomotor milestones acquired the ability to roll over at 9 months and walked at 2.5 years. [link.springer.com]

In one type of muscular dystrophy, patients with mutations in the adhesion molecule alpha 7 integrin experience delayed developmental milestones and impaired mobility. [sciencedaily.com]

Rickets

Dr John Snow (1813–1858) is remembered for his hypothesis that cholera was communicated by contaminated drinking water. On the Mode of Communication of Cholera, published in 1849, was validated on 2 September 1854 when he persuaded the Soho parish Board of Guardians to disconnect the handle of the Broad Street[…] [doi.org]

Muscular Dystrophy-Dystroglycanopathy Type B6

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones [yonsei.pure.elsevier.com]

milestones, or apparent muscle weakness when they began to walk, (2) no CNS symptoms except for mild mental retardation, (3) no brain CT/MRI abnormalities except for white [n.neurology.org]

Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. [spandidos-publications.com]

Congenital Myopathy with Excess of Thin Filaments

The CM clinical spectrum ranges from severe forms presenting with congenital hypotonia, delayed motor milestones, feeding difficulties, muscle weakness, facial muscle involvement [centrodinoferrari.com]

Major motor milestones are delayed, but independent ambulation is achieved. [emedicine.medscape.com]

Though congenital hypotonia with delayed motor milestones and slow progression is the usual presentation, adult onset and more rapid deterioration in childhood, may be seen [reliasmedia.com]

Central Core Disease

milestones. [ncbi.nlm.nih.gov]

We report two unrelated cases with an unusual, early onset congenital myopathy with severe contractures, delayed motor milestones, proximal muscle weakness, normal serum creatine [ncbi.nlm.nih.gov]

Four index cases showed features consistent with a congenital myopathy (hypotonia, delayed motor milestones, and skeletal abnormalities including congenital hip dislocation [ncbi.nlm.nih.gov]

Congenital Muscular Dystrophy Type 1A

[…] motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. [semanticscholar.org]

[…] motor milestones noticed in early infancy with preserved language and social milestones. [casereports.bmj.com]

In our study, patients with complete deficiency, especially children below 3 years, presented with hypotonia and delayed motor milestones. [annalsofian.org]

Atrichia with Papular Lesions

Ectodermal dysplasia was excluded as there was no history of delayed milestones or loss of sweating. [ncbi.nlm.nih.gov]

[…] hair, along with the maternal grandson (one-and-a-half-months) having frontoparietal recession, sparse eyelashes and eyebrows Click here to view There was no history of delayed [idoj.in]

There was no history of delayed milestones, hypohidrosis, bone pains, hearing loss, seizures or similar illness in family. [ncbi.nlm.nih.gov]