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19 Possible Causes for Craniosynostosis, Ear Deformity, 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] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • 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] ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.[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]

  • Craniofrontonasal Dysplasia

    Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[ncbi.nlm.nih.gov] Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent[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]

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[ncbi.nlm.nih.gov] In addition, the eyes may be small and wide set, and the affected individual may have low-set ears.[wisegeek.net] 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]

  • 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] Associated malformations include urinary tract duplication, hydronephrosis, cleft palate, ear deformities, corneal clouding and blue sclera, anal atresia and aplastic testis[fetalultrasound.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]

  • Ring Chromosome 10

    […] 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] GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.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]

  • Kleiner Holmes Syndrome

    Learn more Other less relevant matches: Low match CRANIOSYNOSTOSIS 1; CRS1 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial[mendelian.co] […] crus; Small ears; Low-set ears; Apical cartilage deformity; Deafness; Shallow orbits; Hypertelorism; Plagiocephaly (asymmetry of orbits); Strabismus; Buphthalmos; Ptosis;[panelapp.genomicsengland.co.uk] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov]

  • Seckel Syndrome Type 2

    […] 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] Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Abnormally large globe Increased size of eyes Large eyes [ more ] 0001090 Autosomal recessive[rarediseases.info.nih.gov] In addition, in some cases, certain fibrous joints between the bones of the skull (cranial sutures) may close prematurely (craniosynostosis).[rarediseases.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] syndrome,” and (c) simple or single craniosynostosis.[entokey.com] Deformities, Acquired Ear Diseases Ear Neoplasms Earache Eating Disorders Ebstein's Anomaly Ecchymosis Echinococcosis Echinococcosis, Hepatic Echinococcosis, Pulmonary Echinostomiasis[medgene.med.harvard.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]

  • Greenberg Dysplasia

    1 CRS1 123100 Genetic Test Registry Craniosynostosis 2 Craniosynostosis, Boston-Type CRS2 CSB 604757 Genetic Test Registry Craniosynostosis 5, Susceptibility To CRS5 615529[ukgtn.nhs.uk] Professional Interests Pediatrics Acne treatment, Adolescent health, Asthma, Bedwetting, Behavior problems, Birth deformities, Breastfeeding, Bronchitis, Bronchopulmonary[sutterhealth.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]

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