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13 Possible Causes for Cognitive Developmental Delay, Multiple Congenital Anomalies, Wide Space Between the First and Second Toe

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] […] variants: or Down's syndrome Definition of Down syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in[merriam-webster.com] spacing, often with a deep plantar groove between the first and second toes.[doi.org]

  • Dubowitz Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] The feeding difficulties, developmental and cognitive delay, mottled skin, drug-induced long QT syndrome, short stature, microcephaly, small ears, 2–3 cutaneous syndactyly[journals.plos.org] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Seckel Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index 583[rarediseases.org] Congenital Anomalies-Mental Retardation Syndrome Neurocutaneous Syndrome Neuroectodermal Hamartoma Neurofaciodigitorenal (Nfdr) Syndrome Neurofibromatosis With Noonan Phenotype[neo-genetics.com]

  • Russell-Silver Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Children with RSS have an increased risk for developmental delay (both motor and cognitive) and learning disabilities.[gemssforschools.org] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org]

  • Trisomy 10p

    spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] The last physical examinationwas at 12months of age and a global developmental delay was established.[docslide.fr] congenital anomalies.[ncbi.nlm.nih.gov]

  • Atelosteogenesis Type 2

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Developmental delay may be temporal or permanent; for example, in achondroplasia, motor development may be delayed in the first 2 years, due to macrocephaly and ligamentous[musculoskeletalkey.com] Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal[blueprintgenetics.com]

  • Genee-Wiedemann Syndrome

    He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] Estimates have been made for individuals with specific clinical presentations such as developmental delay/cognitive disability and autism spectrum disorders; in these phenotypes[nature.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Macrocephaly-Developmental Delay Syndrome

    space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Since the early 2000s, PTEN germline mutation haploinsufficiency has been reported in association with autism, variable cognitive impairment and developmental delay in the[consultqd.clevelandclinic.org] congenital anomalies.[molecularcytogenetics.biomedcentral.com]

  • Cutis Laxa

    Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] Despite delays in developmental milestones and language, affected children are said to be cheerful and outgoing. Neurologic findings Cognitive.[ncbi.nlm.nih.gov] Abstract The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Developmental delays are common. Infancy and childhood milestones are often delayed. Many patients have cognitive delays and some are mildly retarded.[disorders.eyes.arizona.edu] Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 3 Multiple congenital anomalies-intellectual[orpha.net]