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11 Possible Causes for Cognitive Developmental Delay, Hydronephrosis, Wide Space Between the First and Second Toe

  • 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] […] cafe-au-lait marks) Curving of the pinky toward the ring finger Delayed bone age Failure to thrive Gastroesophageal reflux disease Kidney problems, such as: Horseshoe kidney Hydronephrosis[coordinatedhealth.com]

  • 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] […] the corpus callosum Asthma Brachydactyly Cataract Chronic diarrhea Cutaneous photosensitivity Cutis marmorata Delayed eruption of teeth Dry skin High palate Hydrocephalus Hydronephrosis[dovemed.com]

  • 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] […] for increased nuchal fold; 11.44 (95% CI, 9.05-14.47) and 0.90 (95% CI, 0.86-0.94) for hyperechogenic bowel; 7.63 (95% CI, 6.11-9.51) and 0.92 (95% CI, 0.89-0.96) for mild hydronephrosis[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] Associated malformations include urinary tract duplication, hydronephrosis, cleft palate, ear deformities, corneal clouding and blue sclera, anal atresia and aplastic testis[fetalultrasound.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] Postnatal urinary tract studies showed a megacystis with associated hydroureters and hydronephrosis (fig 8 ).[jmg.bmj.com]

  • 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] ., renal agenesis, urethral atresia, and hydronephrosis), conductive or sensorineural hearing loss, choanal atresia, mammary gland or nipple hypoplasia, ophthalmological findings[ijo.in]

  • 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] […] malformation Mixed hearing impairment Malar flattening Epicanthus Cupped ear Choanal atresia Vesicoureteral reflux Renal cyst Seizures Depressed nasal bridge Short nose Hydronephrosis[mendelian.co]

  • 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] Distal trisomy 10q associated with bilateral hydronephrosis in infancy. Genet Couns. 2003;14:359-62. Hou JW.[rarediseases.org]

  • Baraitser 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] Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.[mendelian.co] Optic nerve abnormalities can be observed too. [1], [10] Renal abnormalities such as horseshoe kidney and hydronephrosis, not found in our patient, are reported in other cases[pediatricneurosciences.com]

  • MORM 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] […] and developmental delays that range from moderate to severe.[huntershope.org] […] pancreas, adrenal glands, thymus, gallbladder, and thyroid ; Hirschsprung's disease ; gastric reflux, imperforate anus, retention testis, ectopic kidney, renal agenesis, and hydronephrosis[en.wikipedia.org]