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11 Possible Causes for Beaked Nose, Heart Murmur, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    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] This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[ncbi.nlm.nih.gov] General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly[ncbi.nlm.nih.gov]

  • Seckel Syndrome Type 2

    nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal[rarediseases.info.nih.gov] nose, narrow face, and receding lower jaw.[resourcerepository.org] nose.[rarediseases.org]

  • Dubowitz Syndrome

    nose, abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw.[bertsbigadventure.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] 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

    nose, and micrognathia.Visit the Orphanet disease page for more resources.[malacards.org] space between the first and second toes.[medcraveonline.com] There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear[scienceopen.com]

  • Cutis Laxa

    Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose.[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]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Apert syndrome showing frontal overhang, “parrot-beaknose, mild exophthalmos, and exorbitism.[entokey.com] 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]

  • Adactyly of Foot

    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] nose, and ear malformations.[ncbi.nlm.nih.gov] 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]

  • MORM Syndrome

    nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Facial hypotonia Decreased facial muscle tone Low facial muscle tone Reduced facial muscle[rarediseases.info.nih.gov] murmurs Extreme nearsightedness An abnormally curved spine Flat feet When to see a doctor If you think that you or your child may have Marfan syndrome, talk to your doctor[mayoclinic.org] Individuals with arterial tortuosity syndrome often have distinctive facial features such as an elongated face, beaked nose, highly arched palate, small chin (micrognathia[rarediseases.org]

  • Macrocephaly-Developmental Delay Syndrome

    nose May have congenital heart defects (PDA or CoA) Short humerus/femurs, therefore shorter limbs 1 in 100,000 AD inheritance from mutations in FGFR1 and FGFR2 genes FACE[quizlet.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] 46, XY, der(7)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis[chr7.org]

  • Mild Dysmorphic Features

    Rubinstein-Taybi syndrome Broad terminal phalanges, beaked nose, down-slanting palpebral fissures, epicanthal folds, and microcephaly characterize this syndrome.[emedicine.medscape.com] , fourth, and fifth fingers; feet held in eversion, prominent heels; wide space between the first and second toes; proximally placed fifth toes; hypotonia; increased skin[ssmc-tl.com] Cardiology followed for 5 years due to a combination of a slight heart murmur when she was born (resolved), a slight twisting of the descending aorta; at 5y no heart problems[ssmc-tl.com]

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