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15 Possible Causes for Multiple Congenital Anomalies, 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] Motor control and hypotonia Neonates with DS present with muscle hypotonia and many individuals with DS demonstrate some form of motor impairment, often described as clumsiness[doi.org]

  • 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] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org] […] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without[genome.jp]

  • 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] congenital anomalies.[ncbi.nlm.nih.gov]

  • 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] congenital anomalies.[hub.hku.hk]

  • 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] Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal[blueprintgenetics.com]

  • 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] . // Orphanet Journal of Rare Diseases;2008, Vol. 3, Special section p1 The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome[connection.ebscohost.com]

  • 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] Abstract Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region[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] Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 3 Multiple congenital anomalies-intellectual[orpha.net]

  • 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] Schinzel–Giedion Syndrome Individuals with Schinzel–Giedion syndrome (SGS) have severe developmental delay, distinctive facial features, and multiple congenital anomalies[clincancerres.aacrjournals.org]

  • 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] congenital anomalies and intellectual disability.[invitae.com]

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