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15 Possible Causes for Mental Retardation, Neonatal Hypotonia, Wide Space Between the First and Second Toe

  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[patient.info] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org]

  • Ring Chromosome 10

    hypotonia, normal to accelerated growth, autistic behaviour and minor dysmorphic features.[tp.amegroups.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] M–––FD, dysplastic featuresGeneralized hypotonia, PMDDBilateral Wilms tumorThe patient was a mosaic of three cell clones: 46,XY,r(11)(p15.5q25)/45,XY-11/47,XY,r(11)(p15.5q25[edmcasereports.com]

  • Trisomy 10p

    Prader–Willi patients typically present with neonatal hypotonia and poor feeding.[plasticsurgerykey.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.[ncbi.nlm.nih.gov]

  • Atelosteogenesis Type 2

    Hydrocephalus Seizures Survival beyond neonatal period Normal karyotvpe - t 111 3 I4 0 19 2 I5 t - 515 10110 5 I5 NR 315 014 215 0 I4 515 013 414 NR 515 111 415 212 515 111[documents.tips] 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] Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies KBGS 148050 Genetic Test Registry Kniest Dysplasia 156550 Genetic Test Registry Larsen Syndrome[ukgtn.nhs.uk]

  • Russell-Silver Syndrome

    hypotonia Generalized low muscle tone in neonate 0008935 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased[rarediseases.info.nih.gov] At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in[ncbi.nlm.nih.gov] Renal and/or ureteral defects and mental retardation may occur in some cases. Café au lait macules are present in nearly half the cases.[whonamedit.com]

  • Weaver Syndrome

    Additional features that may be present include neonatal hypotonia, seizures, scoliosis, strabismus, congenital heart defects, and cancer (Kaneko et al. 1987 ; Hersh et al[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 clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Patients with FOXG1 pathogenic variants often demonstrate normal birth parameters, followed by hypotonia and extreme irritability in the neonatal period.[chginc.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] […] retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.[mendelian.co]

  • Nicolaides-Baraitser Syndrome

    The neonatal period was complicated by muscular hypotonia, feeding difficulties, and failure to thrive. Bilateral inguinal hernias were operated.[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] Hypotonia Miles-Carpenter syndrome miliaria Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA[rgd.mcw.edu]

  • Baraitser Syndrome

    The first girl had neonatal hypotonia, mental retardation, and generalized tonic-clonic seizures.[omim.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] Abstract We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a[ncbi.nlm.nih.gov]

  • Adactyly of Foot

    […] criteria provided, single submitterCongenital giant melanocytic nevus, Obesity, Behavioral abnormality, Scoliosis, Abnormal facial shape, Hyperpigmentation of the skin, Neonatal[ncbi.nlm.nih.gov] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com] Journal of Medical Genetics 38(6): 405-409, 2001 Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3[eurekamag.com]

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