Delayed Milestone: Causes & Reasons

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Possible Causes for Delayed Milestone

Achondroplasia

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

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

Duchenne Muscular Dystrophy

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

[…] speech and language delay Test for creatine kinase levels if you suspect any neuromuscular condition. [bmj.com]

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

Prader-Willi Syndrome

[…] 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]

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

milestones. [primarycare.imedpub.com]

Noonan Syndrome

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]

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

Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. [adc.bmj.com]

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]

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]

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]

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]

Some children with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) 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]

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]

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]

CHARGE Syndrome

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

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

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]

Pompe Disease

[…] 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]

Major developmental milestones such as rolling over, sitting up, and standing are delayed or not achieved. Mental development is usually normal. [rarediseases.org]

[…] and aspartate transaminase) had delayed development. [doi.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]

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]

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]

Aromatic L-Amino Acid Decarboxylase Deficiency

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

Symptoms of the severe form of tyrosine hydroxylase deficiency are obvious early in infancy and include, poor control of voluntary muscles, delays in achieving motor milestones [rarediseases.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. [medicalxpress.com]

Central Core Disease

milestones. [ncbi.nlm.nih.gov]

Older children present with delayed motor milestones. The physical appearance is striking. [anestesiarianimazione.com]

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]

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]

Rickets

Pan Afr Med J. 2018 May 4;30:9. doi: 10.11604/pamj.2018.30.9.14762. eCollection 2018. Author information 1 Endocrinology Diabetology and Metabolic Diseases Department of the Mohammed "V" Military Hospital, Rabat, Morocco. Abstract Rickets are abnormalities of mineralization that can lead to bone fractures and deformities.[…] [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]

Congenital Muscular Dystrophy

Majority (87.1%) had onset of symptom in infancy with delay in motor milestones. [ncbi.nlm.nih.gov]

Hypotelorism, convergent squint Delayed milestones. MRI study of brain shows: Bilateral symmetric frontal lobar Poly micro gyria. [neuroradiologycases.com]

Abstract A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and delayed motor milestones noticed in early infancy with [ncbi.nlm.nih.gov]