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12 Possible Causes for Craniosynostosis, 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] 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]

  • 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] 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]

  • Ring Chromosome 10

    hypotonia, normal to accelerated growth, autistic behaviour and minor dysmorphic features.[tp.amegroups.com] […] q36.3 8922097, 10982483 case 12 [10982483] Edit 3 4145271_1 46, XY, r(7)(p22q36) [57]/ 46, XY, r(7) [double size ring, 2]/ 45, XY, -7 [2]/ 47, XY, r(7), r(7) [1]/ 46, XY [1] craniosynostosis[chr7.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]

  • 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] MUENKE SYNDROME; MNKES Is also known as muenke nonsyndromic coronal craniosynostosis; Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Global[mendelian.co] 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]

  • Familial Congenital Nasolacrimal Duct Obstruction

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

  • Trisomy 10p

    Prader–Willi patients typically present with neonatal hypotonia and poor feeding.[plasticsurgerykey.com] 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]

  • 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] Out of these clinical criterion, seven clinical findings (neonatal hypotonia, midline facial nevus flammeus, connective tissue defect, developmental delay, toe syndactyly[ijpd.in] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • 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] 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]

  • 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] 2 Craniosynostosis Mental Retardation Clefting Syndrome Craniosynostosis, Adelaide Type Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism Craniosynostosis-Mental[rgd.mcw.edu] 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]

  • MORM Syndrome

    hypotonia Low muscle tone, in neonatal onset 0001319 Pes planus Flat feet Flat foot [ more ] 0001763 Reduced visual acuity Decreased clarity of vision 0007663 Short metacarpal[rarediseases.info.nih.gov] Every year we care for more than 150 children with craniosynostosis syndromes , including Apert.[seattlechildrens.org] Hypotonia Miles-Carpenter syndrome miliaria Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA[rgd.mcw.edu]

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