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5,292 Possible Causes for Early-Onset Coronary Artery Stenosis, Mental Retardation, Polydactyly

  • 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] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature[rarediseases.info.nih.gov] Polydactyly postaxiale labial slit mediane Polydactyly postaxiale backwardness Polydactyly preaxiale Polydactyly preaxiale colobome backwardness small size Polydactyly (generic[wikipedia.qwika.com]

  • Patau Syndrome

    Survivors suffer from severe mental retardation and health problems all their lives.[symptoma.com] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Laurence Moon Syndrome

    Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy.[symptoma.com] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Laurence-Moon-Biedl syndrome [ law rens mo̳n be d'l ] a hereditary autosomal recessive syndrome characterized by obesity, hypogenitalism, retinitis pigmentosa, mental retardation[medical-dictionary.thefreedictionary.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • 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] retardation Cardiac septal defect Patent ductus arteriosus Note that Hypomandibular faciocranial dysostosis symptoms usually refers to various symptoms known to a patient[checkorphan.org] Hypopituitarism postaxial polydactyly[?] Hypopituitarism[?] Hypopituitary dwarfism[?] Hypoplasia hepatic ductular[?] Hypoplasia of the tibia with polydactyly[?][encyclopedia.kids.net.au]

  • Smith Lemli Opitz Syndrome

    Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] It comprises a characteristic combination of facial features, malformations, and mental retardation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Acrocallosal Syndrome

    retardation.[ncbi.nlm.nih.gov] Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes.[ncbi.nlm.nih.gov] […] degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pallister-Hall Syndrome

    Here, we describe a family with two affected children manifesting severe PHS with mental retardation, behavioral problems, and intractable seizures.[ncbi.nlm.nih.gov] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pallister W Syndrome

    Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[cags.org.ae] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] Interestingly these were three patients who also had mental retardation. 6 7 Except for a male with familial TBS, mental retardation, scoliosis, and spina bifida occulta 6[jmg.bmj.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Lenz-Majewski Syndrome

    Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com] […] comparison with other cases of short rib-polydactyl syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly[thieme-connect.com] The short-rib polydactyly syndromes (SRPS) have been divided into four types.[mhmedical.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Acrocephalopolysyndactyly

    Rare autosomal disorder with mental retardation, syndactyly, oxycephaly, congenital heart defects, mild obesity, and hypogenitalism.[encyclo.co.uk] A group of congenital syndromes characterized by abnormal skull shape due to craniosynostosis, brachydactyly, syndactyly, and preaxial polydactyly of hands and/or feet; mental[translate.academic.ru] retardation, hypogenitalism, obesity, and umbilical hernia.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis

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