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12 Possible Causes for Cognitive Developmental Delay, Dysmorphic Face, Wide Space Between the First and Second Toe

  • 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] face (bird-like), and mild to severe intellectual disability.[orpha.net] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

  • 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]

  • 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] […] and further dysmorphisms.[ncbi.nlm.nih.gov]

  • 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] Developmental Delay : behind schedule in reaching milestones of early childhood development Dysmorphic Face : this refers to minor facial anomalies that occur fairly frequently[ric.edu]

  • Atelosteogenesis Type 2

    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] 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 mental retardation, see genitopatellar syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO[mygenomics.com]

  • Macrocephaly-Developmental Delay Syndrome

    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] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Rapid-onset obesity, hypothalamic dysfunction, hypoventilation and autonomic dysregulation associated with a neural tumor Yes Shashi XLMR syndrome Mental retardation, coarse face[raredr.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] Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 20. Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 21.[slideshare.net]

  • Familial Congenital Nasolacrimal Duct Obstruction

    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] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] She had psychomotor retardation (IQ of 45), chronic constipation, and dysmorphic facial features, including square face, high forehead, hypertelorism, epicanthal folds, broad[genome.jp]

  • 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] Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. ・ Toshiyuki Yamamoto et al: Narrowing of the Responsible Region for Severe Developmental Delay and[sites.google.com]

  • Mild Dysmorphic Features

    , fourth, and fifth fingers; feet held in eversion, prominent heels; wide space between the first and second toes; proximally placed fifth toes; hypotonia; increased skin[ssmc-tl.com] […] impairment No Ring chromosome 4 Mental developmental delay, deafness, short stature, obesity and the onset of type 2 diabetes in adolescence No Ring chromosome 11 Ocular[raredr.com] Home Chat with a doctor Mild dysmorphic features My sister has dysmorphic face when we consult doctor it was said.[practo.com]