Create issue ticket

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

  • Down Syndrome

    Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[doi.org] 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]

  • Seckel Syndrome

    These reports illustrate that the Chiari I malformation can develop rapidly in the face of increased intracranial pressure, craniosynostosis, and spinal CSF diversion.[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] […] diseases were distinguished by height: typically in Primary autosomal recessive microcephalies stature was between 1 SD and 2 SD and in Seckel syndrome between 4 and 12 SD) and Craniosynostosis[prenatalmedicine.com]

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[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]

  • Atelosteogenesis Type 2

    Crouzon-like craniosynostosis with acanthosis nigricans Craniosynostosis (Muenke type) Antley-Bixler syndrome Craniosynostosis (Boston type) Saethre-Chotzen syndrome Shprintzen-Goldberg[emedicine.medscape.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

    Williams syndrome Obesity: Prader-Willi syndrome, Beckwith-Wiedemann syndrome Head and Neck Flat occiput: Down syndrome, Zellweger syndrome Prominent occiput: trisomy 18 Craniosynostosis[learn.pediatrics.ubc.ca] 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]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] syndrome,” and (c) simple or single craniosynostosis.[entokey.com] 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

    , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[ctgt.net] 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]

  • Genee-Wiedemann Syndrome

    […] microtia, skin tags, significant developmental delay, cleft palate EFTUD2 gene on chromosome 17q21 Baller Gerold syndrome (OMIM# 218600) Abnormally shaped skull, coronal craniosynostosis[gynecology-obstetrics.imedpub.com] 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]

  • Trisomy 10p

    Med Klin (1968) 0.76 Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "[pubrank.carbocation.com] 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]

  • Baraitser Syndrome

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.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] Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.[mendelian.co]

Similar symptoms