Create issue ticket

16 Possible Causes for Cognitive Developmental Delay, Relative Macrocephaly in Childhood

  • Autosomal Recessive Spastic Paraplegia Type 20

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones.[cags.org.ae] […] disorder with cardiac arrhythmia 617173 604447 Autosomal recessive GNB5 15q21.2 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 617182 604447[mnglabs.com]

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] The facial gestalt may be easier to recognize in early childhood.[nature.com]

  • Fitzsimmons-Guilbert Syndrome

    Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal.[nectarmutation.org] He has moderate cognitive handicap and pervasive developmental delay.[ncbi.nlm.nih.gov] Developmental milestones, if attained, soon regress accompanied by distal amyotrophy, cognitive impairment that may be severe, ataxia, spastic tetraplegia, dysarthria, and[disorders.eyes.arizona.edu]

  • Autism

    Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov] developmental delay in the first years of life.[doi.org] Your doctor may recommend developmental tests to identify if your child has delays in cognitive, language and social skills, if your child: Doesn't respond with a smile or[mayoclinic.org]

  • Spastic Paraplegia

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome.[en.wikipedia.org] [ edit ] Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome. [7] Neurologic [ edit ][en.wikipedia.org]

  • Opitz-Kaveggia Syndrome

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] The facial gestalt may be easier to recognize in early childhood.[nature.com]

  • Neurofibromatosis Type 1

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] : Developmental delay Learning disabilities- hyperactivity and/or speech problems occur in 50% Mental retardation (8% of patients) Other-occasional: Syndactyly Glaucoma Ptosis[en.wikibooks.org] Patients should be monitored at every clinic visit for growth and developmental delays, precocious puberty, hypertension, scoliosis and other bony abnormalities, and cognitive[now.aapmr.org]

  • Fragile X Syndrome

    Seizures have been reported in approximately 13% to 18% of affected males and 5% of females with a full mutation, and there may be relative macrocephaly.[pediatrics.aappublications.org] All 4 children with full mutation showed significant developmental delay, cognitive dysfunction, and varying degrees of autistic behaviors.[ncbi.nlm.nih.gov] Those born with FXS experience cognitive and social impairments, developmental delays, and some features of autism spectrum disorders.[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and[ncbi.nlm.nih.gov] Although developmental delays might be expected in children with CHARGE syndrome, the incidence of cognitive impairment in CHARGE syndrome is probably 50% or less.[leader.pubs.asha.org]

  • Beckwith-Wiedemann Syndrome

    macrocephaly, triangular face and feeding difficulties in early childhood [ 2, 3 ].[bmcmedgenet.biomedcentral.com] Certainly they are not part of a more general developmental delay, hearing problems or cognitive malfunctioning.[ncbi.nlm.nih.gov] […] a major cause of Silver Russell syndrome (SRS: OMIM 180860), characterized by intrauterine and postnatal growth restriction and a variable expression of limb asymmetry, relative[bmcmedgenet.biomedcentral.com]

Further symptoms