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5,344 Possible Causes for Craniosynostosis, Early-Onset Coronary Artery Stenosis, Mental Retardation

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] retardation.[medical-dictionary.thefreedictionary.com] Some of these features may be absent, particularly clouding of the cornea and mental retardation.[jamanetwork.com]

  • Hypomandibular Faciocranial Dysostosis

    Overfriendliness Nystagmus-induced head nodding Early onset of sexual maturation Coronary artery stenosis Functional abnormality of male internal genitalia Dyssynergia Thyroid[mendelian.co] This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition.[ncbi.nlm.nih.gov] retardation Cardiac septal defect Patent ductus arteriosus Note that Hypomandibular faciocranial dysostosis symptoms usually refers to various symptoms known to a patient[checkorphan.org]

  • Pfeiffer-Palm-Teller Syndrome

    Elfin facies Paroxysmal bursts of laughter Coronary artery stenosis Abnormality of the bladder Infantile hypercalcemia Renovascular hypertension Overriding aorta Abnormal[mendelian.co] Type 3 includes craniosynostosis and severe proptosis.[en.wikipedia.org] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature[rarediseases.info.nih.gov]

  • Crouzon Syndrome

    Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca] retardation.[ncbi.nlm.nih.gov] A sporadic case of Crouzon Syndrome without mental retardation is described.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    We present the first reported case associating MPS-I (Hurler-Scheie subtype) with craniosynostosis. A 2.5-year-old girl presented initially with macrocrania.[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] […] syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis[icd9data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mandibulofacial Dysostosis

    In conclusion, in children with syndromic or complex craniosynostosis, diagnosing OSA using home cardiorespiratory monitoring is feasible.[doi.org] Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay.[ncbi.nlm.nih.gov] Other abnormalities ( cleft palate, colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent.[patient.info]

    Missing: Early-Onset Coronary Artery Stenosis
  • Saethre-Chotzen Syndrome

    Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] The occurrence among 13 siblings of a malformation-mental retardation syndrome and diverse malignancies was investigated for etiologic relationship by clinical, genetic, immunologic[ncbi.nlm.nih.gov] However, they did distinguish themselves by the presence of many additional anomalies and diseases and--most importantly--the high frequency of mental retardation, which was[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Down Syndrome

    Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[doi.org] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org] Conners, Language development in Down syndrome: From the prelinguistic period to the acquisition of literacy, Mental Retardation and Developmental Disabilities Research Reviews[oadoi.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Rubinstein-Taybi Syndrome

    The term craniosynostosis refers to an abnormality in which the bones in an infant's skull fuse prematurely.[forgottendiseases.org] The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation[ncbi.nlm.nih.gov] The risk of developing this disease is 1 in 100,000-125,000 newborns and up to about 1 in 300 of institutionalized mentally retarded patients.[clinicaladvisor.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Smith-Magenis Syndrome

    Gorlin, Craniosynostosis update 1987, American Journal of Medical Genetics, 31, S4, (99-148), (2005).[doi.org] Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial[ncbi.nlm.nih.gov] Since then, mental retardation, particularly in terms of language development, became increasingly more obvious.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis

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