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362 Possible Causes for Congenital Heart Disease, Macrocephaly, Round Face

  • Mucopolysaccharidosis

    The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net] Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[symptoma.com]

  • Mucopolysaccharidosis 1

    Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com] Individuals with MPS I may have a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features[ghr.nlm.nih.gov]

  • 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] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[ncbi.nlm.nih.gov]

  • Trisomy 12p

    heart disease and global developmental delay.[karger.com] Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental[rarediseases.info.nih.gov] . / Morcillo, André M. 2009 358 Effects of ghrelin on growth and cardiac function in infants with congenital heart disease Kitamura, Tomohiro / Shimizu, Toshiaki / Ohkawa,[tib.eu]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Aarskog syndrome 0 *Dwarfism *Hand Deformities, Congenital *Heart Defects, Congenital *Genetic Diseases, X-Linked Face/abnormalities Genitalia, Male/abnormalities.[reference.md] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] […] dysplasia Laplane Fontaine Lagardere syndrome Laron Syndrome GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Laron syndrome type 2 Megaepiphyseal dwarfism Mental retardation, macrocephaly[sites.google.com]

  • 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] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org]

  • Robinow Syndrome

    Teebi, Congenital heart disease in Robinow syndrome, American Journal of Medical Genetics, 77, 4, (332-333), (1999).[doi.org] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com] The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Some patients have cleft palate, congenital heart disease or renal malformations. The occurrence of congenital heart disease in RCDP patients is as high as 50%.[clinicaladvisor.com] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Mandibulofacial Dysostosis

    Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities.[ncbi.nlm.nih.gov] 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] Macrocephaly, relative Mandibulofacial dysostosis Micrognathia-glossoptosis Oculoauricular vertebral dysplasia Oculomandibular dysostosis Pierre Robin syndrome Relative macrocephaly[icd9data.com]

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