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25 Possible Causes for Short Stature, Ventricular Septal Defect, Wide Space Between the First and Second Toe

  • Down Syndrome

    stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called[merriam-webster.com] CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common.[ncbi.nlm.nih.gov] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Seckel Syndrome

    Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like[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] One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly, mild mental retardation[wikidata.org] septal defects, as well as patent ductus arteriosus).[symptoma.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]

  • Atelosteogenesis Type 2

    More than 200 inherited skeletal dysplasias are currently recognised.[socialstyrelsen.se] Defects Chapter 77 Ventricular Septal Defect Chapter 78 Atrioventricular Septal Defect Section Three Right Heart Defects Chapter 79 Tricuspid Atresia Chapter 80 Ebstein Anomaly[elsevier.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

    Clinical features included development retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity.[eurekamag.com] […] secundum and a small ventricular septal defect (VSD).[molecularcytogenetics.biomedcentral.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]

  • Short Stature due to Endocrine Disorder

    […] nonfamilial short stature).[karger.com] septal defect Hole in heart wall separating two lower heart chambers 0001629 Showing of 48 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often[rarediseases.info.nih.gov] stature Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to partial GHR deficiency Short stature due to primary[se-atlas.de]

  • Cutis Laxa

    stature, microcephaly, and severe developmental and speech delay.[ncbi.nlm.nih.gov] septal defect , Indian J Surg , 2005 , vol. 67 (pg. 43 - 4 ) 5 Autosomal recessive cutis laxa syndrome revisited , Eur J Hum Genet , 2009 , vol. 17 (pg. 1099 - 100 ) 6 Fibulins[academic.oup.com] 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]

  • Genee-Wiedemann Syndrome

    Richieri‐Costa and Sonia Cristina Silveira Pereira, Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome[doi.org] Other features include supernumerary vertebrae and other vertebral segmentation and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect and Ostium[en.wikipedia.org] 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]

  • Kenny-Caffey Syndrome Type 1

    Short and tall stature: a new paradigm emerges. Nat rev endocrinol. 2015;11:735–46.[springermedizin.de] septal defect [10].[medcraveonline.com] Patients with FAM111A mutations have severe short stature ( 3 to 7 SDS) [ 4 ].[ijpeonline.biomedcentral.com]

  • Greenberg Dysplasia

    skeletal dysplasias and dysostoses ...[ibis-birthdefects.org] Congenital cardiac defects are seen in chondroectodermal dysplasia, 26 the short-rib polydactyly disorders (complex outlet defects including isolated ventricular septal defects[nature.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]

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