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

  • Down Syndrome

    RESULTS: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96).[ncbi.nlm.nih.gov] 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]

  • Dubowitz Syndrome

    Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects.[ncbi.nlm.nih.gov] 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]

  • Seckel Syndrome

    Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) cryptorchidism low birth[en.wikipedia.org] 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] ., cryptorchidism).[medical-dictionary.thefreedictionary.com]

  • Russell-Silver Syndrome

    […] retardation Normal head circumference Triangular face Fifth finger clinodactyly Normal psychomotor development Supportive criteria Short arm length Limb length asymmetry Cryptorchidism[en.wikibooks.org] 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]

  • Atelosteogenesis Type 2

    Psychomotor delay; seizures; cardiovascular anomalies, including aortic and pulmonary stenosis and septal defects; and genitourinary anomalies, including absent kidney and cryptorchidism[musculoskeletalkey.com] 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]

  • Macrocephaly-Developmental Delay Syndrome

    Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, characteristic facies, varied[rasopathiesnet.org] 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]

  • Genee-Wiedemann Syndrome

    […] kidney ; Autosomal recessive inheritance ; Choanal atresia ; Cleft palate ; Cleft upper lip ; Conductive hearing impairment ; Congenital hip dislocation ; Conical tooth ; Cryptorchidism[mousephenotype.org] 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]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty[mendelian.co] 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]

  • Cutis Laxa

    . , 1983), while in males cryptorchidism is frequent (Hunter et al. , 1978) and hydrocele has been reported once (Fitzsimmons et al. , 1985).[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] 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]

  • Trisomy 10p

    Additionally, genital anomalies in males, such as cryptorchidism are a highly frequent phenotype associated with the deletion 10q26.[e-sciencecentral.org] 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]

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