Create issue ticket

5,703 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Mental Retardation, Posture Abnormal

  • Sotos Syndrome

    Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal[] Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.[] Sotos syndrome is a genetic disorder characterized by early and excessive growth, acromegalic features, mental retardation, advanced bone age, and a distinctive facial appearance[]

  • Duchenne Muscular Dystrophy

    Camptocormia, or bent spine syndrome, is an abnormal posture consisting of forward flexion of the spine that disappears when a patient is supine.[] Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[] Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Cerebral Palsy

    […] secondary to abnormal muscle tone, spasticity being the most common abnormality of tone The majority of cerebral palsy is not related to birth asphyxia Cerebral palsy is[] LBW and mental retardation ( 7 ).[] abnormalities, and painful movement.[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Congenital Muscular Dystrophy

    The symptoms include: trouble walking loss of reflexes difficulty standing up poor posture bone thinning scoliosis, which is an abnormal curvature of your spine mild intellectual[] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Rubinstein-Taybi Syndrome

    […] head postures and turns or tilts, (in nerve palsies), head thrusts (in oculomotor apraxia), and abnormalities of the eyelids such as ptosis (in oculomotor palsy, myasthenia[] The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation[] 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.[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Neurofibromatosis Type 1

    All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development.[] retardation (8% of patients) Other-occasional: Syndactyly Glaucoma Ptosis Pruritis Diagnostic Criteria [ edit ] (clinical diagnosis based on a number of clinical findings[] A much smaller percentage experience more significant cognitive difficulties such as mild or moderate mental retardation.[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] Retardation, Vienna.[] Willi: Das Syndrom von Imbezilit Ąt, Adipositas, Muskelhypotonie, Hypogenitalismus, Hypogonadismus und Diabetes mellitus mit "Anamnese". 2nd Internationa Congress of Mental[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[] Characteristic radiographic findings of thickening of the calvarium, sclerotic epiphyses, vertebral and pelvic abnormalities Family history.[] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[]

  • Urea Cycle Disorder

    […] seizures, abnormal posturing, and deterioration into coma.[] Compared with a previous study conducted in Japan, a larger number of patients survived without mental retardation, even when the peak blood ammonia was 360 μmol/L.[] […] disorder The list of signs and symptoms mentioned in various sources for Inborn urea cycle disorder includes the 30 symptoms listed below: * Urea cycle enzyme deficiency * Mental[]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Patterson Pseudoleprechaunism Syndrome

    […] age; [Limbs]; Joint laxity; Genu valgum; Long arm span; [Hands]; Large hands; Disharmonic maturation of phalanges and carpal bones; [Feet]; Pes planus; Large feet SKIN, NAILS[] Type 1 and type 2 muscle fiber minicore regions Sternocleidomastoid amyotrophy Abnormality of muscle morphology Muscle fiber hypertrophy Internally nucleated skeletal muscle[] retardation, and major bony deformities.[]

Similar symptoms