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623 Possible Causes for Congenital Heart Disease, Round Face

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder. METHODS: We treated 10 patients with mucopolysaccharidosis I[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Summary Epidemiology Prevalence at birth in Europe is 1/166,000. It is an X-linked recessive disorder; very rare cases of female presentation have been reported. Clinical description MPS2 patients appear healthy at birth, with initial symptoms appearing between 18 months and 4 years of age. Macrocephaly develops[…][orpha.net]

  • Mucopolysaccharidosis 1

    Summary Epidemiology Prevalence is estimated at 1/100,000, with Hurler syndrome accounting for 57% of cases, Hurler-Scheie syndrome accounting for 23% of cases and Scheie syndrome accounting for 20% of cases. Clinical description In the severe form (Hurler syndrome or MPS I-H; see this term) skeletal deformities[…][orpha.net]

  • Marfan Syndrome

    In 2013, a strange and creepy screen test started making the rounds in Hollywood.[hollywoodreporter.com] Colorado Fetal Care Center Colorectal and Urogenital Care Heart Complex Congenital Heart Disease & Development Clinic Orthopedics Concussion Program Surgery Craniofacial[childrenscolorado.org] The Adult Congenital Heart Disease Program shared by Seattle Children’s and the University of Washington can help with care throughout your child’s life.[seattlechildrens.org]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Congenital heart disease and its related symptoms, heart murmur. Speech delay. Abnormal facies: cleft palate, micrognathia, ear abnormalities.[patient.info] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com]

  • Aarskog Syndrome

    face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov] We therefore propose that all patients with Aarskog syndrome be screened for congenital heart disease.[icvts.oxfordjournals.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] heart disease and Down syndrome.[ncbi.nlm.nih.gov] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Mandibulofacial Dysostosis

    The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities.[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[rarediseases.info.nih.gov]

  • Pierre Robin Syndrome

    round face - - Micrognathia - - - - - - - - - - - - - - Bilateral inguinal hernia - - - - - - - - - - - - - - Hand anomalies - Foot abnormality - - - - - Congenital heart[molecularcytogenetics.biomedcentral.com] Congenital heart disease occurs in about 20 percent of patients with Pierre Robin syndrome.[ncbi.nlm.nih.gov] There are often signs of congenital heart disease, such as atrial septal defect (ASD), patent ductus arteriosus, ventricular septal defect (VSD).[doi.org]

  • Barth Syndrome

    Pathologic Processes Heart Defects, Congenital Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Abnormalities, Multiple Congenital Abnormalities Genetic[clinicaltrials.gov] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents[nicklauschildrens.org]

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