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17 Possible Causes for Heart Murmur, Skeletal Dysplasia, Wide Space Between the First and Second Toe

  • Down Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.[nlm.nih.gov]

  • Seckel Syndrome

    Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([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] Dysplasias and Disorders Panel.[blueprintgenetics.com]

  • Atelosteogenesis Type 2

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.[thehealthscience.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] murmur 82.[tawnymullins77.blogspot.com]

  • Seckel Syndrome Type 2

    Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2,...[centogene.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] (radial dislocation), dislocation of the elbows, dislocation and/or malformation (dysplasia) of the hips, and/or an inability to fully extend the knees.[rarediseases.org]

  • Dubowitz Syndrome

    22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.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] The doctors had identified a heart murmur and they told Imogen and husband Ken to keep a close eye on her.[belfasttelegraph.co.uk]

  • Kenny-Caffey Syndrome Type 1

    Hereditary skeletal dysplasia resulting in proportionate dwarfism characterized by thickening of the inner corticalis and stenosis of the medullary cavities of the tubular[accessanesthesiology.mhmedical.com] space between the first and second toes.[medcraveonline.com] During the course of his fellowship, he initiated positional cloning studies of an autosomal recessive skeletal dysplasia, the Kenny-Caffey Syndrome (KCS), using eight consanguineous[grantome.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia, syndromic[mendelian.co] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] murmurs reflect underlying heart disease.[quizlet.com]

  • Cutis Laxa

    In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia[ncbi.nlm.nih.gov] 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] First and 2 nd heart sounds were normal in intensity but here was a pansystolic murmur 2-3/6 heard all over the precardium.[ispub.com]

  • Adactyly of Foot

    The prevalence of skeletal dysplasias ranges from 2.3 to 7.6 per 10,000 births and approximately 1.5 per 10,000 births for lethal skeletal dysplasias ( 13, 14 and 15 ).[musculoskeletalkey.com] 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] Congenital heart disease is something you are born with, such as a murmur. If her artery is becoming slowly blocked, she does not have congenital disease.[lookfordiagnosis.com]

  • Multiple Epiphyseal Dysplasia - Severe Proximal Femoral Dysplasia

    dysplasias.[books.google.com] (C) Adduction of the right forefoot with wide spacing between the first and second toes. The left foot shows only mild shortening of the first toe.[jmg.bmj.com] Heart regular without murmurs. Lungs clear bilaterally. Abdomen soft, no organomegaly, no masses. Normal male genitalia.[hawaii.edu]

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