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17 Possible Causes for Heart Murmur, Short Stature, 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] The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.[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] murmur Heart murmurs 0030148 High palate Elevated palate Increased palatal height [ more ] 0000218 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hyperactivity[rarediseases.info.nih.gov]

  • Seckel Syndrome Type 2

    stature and abnormally small arms and legs (short-limbed dwarfism).[rarediseases.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] Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head ( microcephaly ), receding forehead, large eyes[medicinenet.com]

  • 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] The doctors had identified a heart murmur and they told Imogen and husband Ken to keep a close eye on her.[belfasttelegraph.co.uk] 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] 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]

  • Kenny-Caffey Syndrome Type 1

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

  • Cutis Laxa

    stature, microcephaly, and severe developmental and speech delay.[ncbi.nlm.nih.gov] 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] 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]

  • 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]

  • Baraitser Syndrome

    As a result of prenatal and postnatal growth retardation, most of these patients have a short stature.[ijpd.in] 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] Left ventricular hypertrophy Gonadal dysgenesis Abnormality of the coagulation cascade Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Heart[mendelian.co]

  • Trisomy 10p

    A mentally retarded boy with short stature, craniofacial dysmorphia, clubfeet, hypertonia and several other congenital anomalies is described.[ncbi.nlm.nih.gov] murmur Renal defect Genital defect Cryptorchidism Limb defects Clinodactyly Syndactyly Club foot Wide sandal gap Nail dysplasia Anemia Extra / single palmar creases Narrow[e-sciencecentral.org] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

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