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2,133 Possible Causes for No 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.[] Thus far, the molecular mechanism of the dysmorphic features is only poorly understood.[] Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms.[]

  • Sanjad-Sakati Syndrome

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

  • 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.[] Dysmorphic and central nervous system abnormalities, anemia, and cholestasis were prominent features in 1 sibling.[] Dysmorphic features were more apparent in the two older siblings.[]

  • 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[] 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[] We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities.[]

  • Kenny-Caffey Syndrome Type 1

    A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.[] Record : found Abstract : found Article : not found A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.[] Congenital hypoparathyroidism with dysmorphic features: A new syndrome. Pediatr Res. 1988; 23 :71A. [ Google Scholar ] 8.[]

  • 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[] Abstract Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 syndrome [r(20)], while dysmorphic features, mental retardation and behavioural disturbances[] A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should[]

  • Microdeletion 3q29 Syndrome

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

  • Mulibrey Nanism Syndrome

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

  • 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[] The infant was delivered prematurely; it showed no dysmorphic features and had no postpartum respiratory problems.[] Abstract We report one case of King syndrome with myopathy, dysmorphic features, and malignant hyperthermia. The patient was a 1-year-old boy.[]

  • Goldberg-Shprintzen Syndrome

    features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma.[] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[] Article 136 Downloads 2 Citations Abstract We report the case of a Japanese boy whose dysmorphic features were consistent with those of Shprintzen-Goldberg syndrome.[]

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