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54 Possible Causes for Variably Dysmorphic Facies

  • Strabismus

    facies, and cardiac, renal, and vertebral anomalies are variably expressed.[doi.org] […] incompletely penetrant, and affected individuals can have DRS and/or radial dysplasia ranging from hypoplasia of the thenar eminence to absent forearm. 76, 77 Hearing loss, dysmorphic[doi.org]

  • Legius Syndrome

    The cardinal features of NS are characteristic facies, short stature, congenital heart defects, skeletal abnormal-ities, cryptorchidism, and variable development delay [Allanson[docslide.com.br] The facial dysmorphisms show considerable change with Key Words Facial characteristics Congenital heart defects Noonan syndrome RAS-MAPK pathway RASopathies Abstract Noonan[docslide.com.br]

  • Kuskokwim Disease

    […] expressivity) [14] : Type I (Distotarlar dysmorphism) - Adducted thumbs, ulnar deviation of metacarpophalangeal (MP) joints, normal facies Type IIA (Freeman-Sheldon syndrome[emedicine.medscape.com] Distal arthrogryposes These involve the distal joints and include the following types and subtypes (all have autosomal dominant inheritance with reduced penetrance and variable[emedicine.medscape.com]

  • Hypertelorism

    Congenital Heart Defects, Dysmorphic Facies, and Intellectual Developmental Disorder Clinical Characteristics Ocular Features: The dysmorphic facial features primarily involve[disorders.eyes.arizona.edu] Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?[disorders.eyes.arizona.edu]

  • Tel Hashomer Camptodactyly Syndrome

    […] expressivity) [14] : Type I (Distotarlar dysmorphism) - Adducted thumbs, ulnar deviation of metacarpophalangeal (MP) joints, normal facies Type IIA (Freeman-Sheldon syndrome[emedicine.medscape.com] Distal arthrogryposes These involve the distal joints and include the following types and subtypes (all have autosomal dominant inheritance with reduced penetrance and variable[emedicine.medscape.com]

  • Blepharofacioskeletal Syndrome

    Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males.[ncbi.nlm.nih.gov] facies, and hypospadias in males.[malacards.org] The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009).[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    Simpson-Golabi-Behmel Syndrome (SGBS) is a rare recessive X-linked disorder characterized by pre- and postnatal overgrowth, distinctive dysmorphic facies and variable congenital[turkishjournalpediatrics.org]

  • Alagille Syndrome

    Alagille syndrome (AGS) is a highly variable, autosomal dominant disorder that affects the liver, heart, eyes, and skeleton with recognizable facial dysmorphic features including[journals.lww.com] […] triangular facies, prominent quadrangular forehead, pointed chin, and hypertelorism (1–3) .[journals.lww.com]

  • Talipes Calcaneovalgus

    All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed[ncbi.nlm.nih.gov] Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    […] expressivity) [14] : Type I (Distotarlar dysmorphism) - Adducted thumbs, ulnar deviation of metacarpophalangeal (MP) joints, normal facies Type IIA (Freeman-Sheldon syndrome[emedicine.medscape.com] Distal arthrogryposes These involve the distal joints and include the following types and subtypes (all have autosomal dominant inheritance with reduced penetrance and variable[emedicine.medscape.com]

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