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2,652 Possible Causes for Dysmorphic Features

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    The subtle nature of the cardiac and dysmorphic features may delay the recognition of this syndrome and its potentially lethal cardiac dysrhythmias.[ncbi.nlm.nih.gov] Thus far, the molecular mechanism of the dysmorphic features is only poorly understood.[ncbi.nlm.nih.gov] Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms.[ncbi.nlm.nih.gov]

  • Sanjad-Sakati Syndrome

    A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.[doi.org] At birth, there is dysmorphism, which is later typified into the features described below.[en.wikipedia.org] There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear[doi.org]

  • Kenny-Caffey Syndrome Type 1

    A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.[ncbi.nlm.nih.gov] Congenital hypoparathyroidism with dysmorphic features: A new syndrome. Pediatr Res. 1988; 23 :71A. [ Google Scholar ] 8.[ncbi.nlm.nih.gov] Examination revealed noticeable dysmorphic features including beaked nose tip, thin lips, micrognathia, and prominent forehead.[ncbi.nlm.nih.gov]

  • Mevalonate Kinase Deficiency

    MA is an early-onset disorder characterized by a marked failure to thrive, diverse neurologic symptoms, dysmorphic features, and recurrent febrile episodes.[ncbi.nlm.nih.gov] Dysmorphic and central nervous system abnormalities, anemia, and cholestasis were prominent features in 1 sibling.[ncbi.nlm.nih.gov] Dysmorphic features were more apparent in the two older siblings.[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies

    In this study, we report on a male infant with a novel reciprocal 3.671 Mb microduplication at the genomic region 3q13.2q13.31 associated with dysmorphic features and multiple[ncbi.nlm.nih.gov] We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities.[ncbi.nlm.nih.gov] We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution[ncbi.nlm.nih.gov]

  • 17q11 Microdeletion Syndrome

    @article{Xie2016AND, title {A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features[semanticscholar.org] Conclusions A rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features.[molecularcytogenetics.biomedcentral.com] We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning disability, dysmorphic features and[pdfs.semanticscholar.org]

  • Mulibrey Nanism Syndrome

    She had severe growth failure and craniofacial dysmorphic feature.[jthc.tums.ac.ir] Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such[agris.fao.org] features, muscolar hypotonia, veins congestion secondary to constrinctive pericarditis and yellowish dots in fundi.[documents.irevues.inist.fr]

  • Ring Chromosome 20 Syndrome

    Abstract Ring chromosome 20 mosaicism is associated with dysmorphic features, mental retardation, and intractable seizures, including recurrent episodes of nonconvulsive status[ncbi.nlm.nih.gov] Abstract Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 syndrome [r(20)], while dysmorphic features, mental retardation and behavioural disturbances[ncbi.nlm.nih.gov] A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should[ncbi.nlm.nih.gov]

  • Microdeletion 3q29 Syndrome

    features.[ncbi.nlm.nih.gov] Abstract The screening of individuals with mild dysmorphic features and mental retardation using whole genome scanning technologies has resulted in the delineation of several[ncbi.nlm.nih.gov] The screening of individuals with minimal dysmorphic features and mental retardation as the predominant feature has resulted in the delineation of several new microdeletion[ashg.org]

  • King Syndrome

    King syndrome is characterized by the presence of a nonspecific myopathy, a susceptibility to malignant hyperthermia, and dysmorphic features similar to the phenotype seen[ncbi.nlm.nih.gov] The infant was delivered prematurely; it showed no dysmorphic features and had no postpartum respiratory problems.[lumbee.library.appstate.edu] KDS is a rare condition characterized by a triad of dysmorphic features, malignant hyperthermia susceptibility (MHS), and myopathy.[disabled-world.com]

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