Duchenne Muscular Dystrophy
All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed.[patient.info]
Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay.[orpha.net]
delay.[patient.info]
Mental Retardation
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]
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]
Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[babysfirsttest.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]
Niemann-Pick Disease Type C
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]
[…] development milestones childhood presentation: ataxia, falls, poor school performance adolescent and adult prestenation: psychiatric illnesses, ataxia Radiographic features[radiopaedia.org]
[…] developmental milestones.[patient.info]
Down Syndrome
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]
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]
Glycogen Storage Disease Type 2
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[dx.doi.org]
Achondroplasia
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, 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]
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]
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]