Possible Causes for delayed milestone 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] 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] 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] 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] 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 presentation: psychiatric illnesses, ataxia Radiographic features [radiopaedia.org] Cognitive impairment may range from a delay in developmental milestones to mental retardation. [hindawi.com] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Mucopolysaccharidosis Type 1 Some children with mucopolysaccharidosis type I (MPS I) have developmental delays. [babysfirsttest.org] […] developmental milestones and a plateau in development, followed by progressive and inexorable regression. [rheumatology.oxfordjournals.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 H The most common symptoms that prompted the workup leading to diagnosis were kyphosis ( n 19; 34.5%), delayed acquisition of motor or language milestones ( n 17; 30.9%), [ojrd.biomedcentral.com] 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] Prader-Willi Syndrome milestones. [primarycare.imedpub.com] […] attainment of developmental milestones; sometimes diabetes mellitus. [whonamedit.com] Delays in milestones. Difficulty with physical coordination. Excessive sleeping or sleep disorders. Excessive weight gain, overeating or obesity. Extreme flexibility. [gillettechildrens.org] 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] 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] Velocardiofacial Syndrome Many infants present with generalized hypotonia and delayed milestones. There are psychological consequences with the reduction of full-scale intelligence quotient. [clinicaladvisor.com] Delays in reaching infant milestones like sitting up or rolling over Speech or motor development delays. [syndromepictures.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] 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] 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] 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] Vitamin B12 Deficiency We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficiency on the basis of history of delayed milestone, abdominal [ncbi.nlm.nih.gov] […] in developmental milestones and communicative reactions Significant delay in developmental milestones and communicative reactions Significant delay in developmental milestones [doi.org] […] and communicative reactions Able to remain seated with delay in other developmental milestones and communicative reactions Able to remain seated, delay in gross motor function [doi.org] 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] Vitamin D Deficiency […] in milestones such as standing and walking, frequent falls, and delayed growth. [news-medical.net] […] evidence of rickets Chronic rickets or impaired bone mineralization with normal or asymptomatic low calcium levels Early rickets presents with symptoms such as bone pain, delay [news-medical.net] 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] Cystitis Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. [ncbi.nlm.nih.gov] Atrichia with Papular Lesions There was no history of delayed milestones, hypohidrosis, bone pains, hearing loss, seizures or similar illness in family. [ncbi.nlm.nih.gov] Congenital Muscular Dystrophy Hypotelorism, convergent squint Delayed milestones. MRI study of brain shows: Bilateral symmetric frontal lobar Poly micro gyria. [neuroradiologycases.com] Majority (87.1%) had onset of symptom in infancy with delay in motor milestones. [ncbi.nlm.nih.gov] 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]
