Mucopolysaccharidosis
Severe coronary artery disease is well recognized in severe type I mucopolysaccharidosis (Hurler syndrome), but unexpected coronary artery disease occurs in other, "non-Hurler[ncbi.nlm.nih.gov]
facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov]
The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov]
Mucopolysaccharidosis 1H
: early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org]
Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu]
retardation.[medical-dictionary.thefreedictionary.com]
Mucopolysaccharidosis 1
Systems Cardiology Cardiac involvement includes cardiomyopathy, endocardiofibroelastosis, progressive valvular disease, and coronary artery disease.[medicalhomeportal.org]
Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com]
Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am]
Mucopolysaccharidosis 2
A thickened myocardium eventually leads to coronary artery compromise, myocardial disease, and, in conjunction with airway disease, pulmonary hypertension.[emedicine.medscape.com]
Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]
Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]
Alpha-Mannosidosis
For Cardiovascular Group: Either have coronary artery disease, rhythm or conduction abnormality, cardiomyopathy or valvular disease.[rarediseasesnetwork.org]
Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov]
All patients showed mental retardation and hearing loss from early childhood.[ncbi.nlm.nih.gov]
Costello Syndrome
The most likely diagnosis is: a) Coronary artery disease b) Dilated cardiomyopathy c) Hypertrophic cardiomyopathy 3) In this paper not much detailed information is given about[aadmd.org]
facial features and skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov]
From Wikidata Jump to navigation Jump to search syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed[wikidata.org]
Simpson Dysmorphia Syndrome
Dry ice used to keep food cold, pyrethroid Pesticides Pre-existing illness—such as anemia, asthma, COPD, and coronary arterial disease—the stresses of flight could exacerbate[wikivisually.com]
facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis.[zora.uzh.ch]
Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.[ncbi.nlm.nih.gov]
Pseudo-Hurler Polydystrophy
: early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org]
These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement[en.wikipedia.org]
Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis[familydiagnosis.com]
Aspartylglucosaminuria
For Cardiovascular Group: Either have coronary artery disease, rhythm or conduction abnormality, cardiomyopathy or valvular disease.[rarediseasesnetwork.org]
facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com]
Aspartylglucosaminuria is a progressive genetic disorder belonging to the group of lysosomal storage diseases, with progressive mental retardation appearing in early infancy[symptoma.com]
Atkin Syndrome
Insulin resistance-related factors, but not glycemia, predict coronary artery disease in type 1 diabetes: 10 year follow-up data from the Pittsburg Epidemiology of Diabetes[revespcardiol.org]
Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers.[ncbi.nlm.nih.gov]
[…] and shortness of breath related to heart disease, bypass clogged coronary arteries, effectively treat people who have survived heart attacks and even, in some cases, stop[books.google.com]