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909 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD), Renal Agenesis or Hypoplasia

Did you mean: Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD, Renal Agenesis or Hypoplasia

  • Sclerosteosis Type 2

    Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org] […] of cerebellar vermis Communicating hydrocephalus Central apnea Impaired smooth pursuit Abnormal renal physiology Congenital blindness Acute kidney injury Retinal coloboma[mendelian.co] External genital hypoplasia Molar tooth sign on MRI Nephronophthisis Abnormal saccadic eye movements Metopic synostosis Cerebellar hypoplasia Noncommunicating hydrocephalus[mendelian.co]

  • Fraser Syndrome

    Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects.[ncbi.nlm.nih.gov] In addition to syndactyly, Fraser syndrome can involve severe malformations affecting the urinary system (e.g. renal agenesis or hypoplasia), larynx (stenosis, atresia), ears[cags.org.ae] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[checkorphan.org]

    Missing: Microcephaly (2-3 SD)
  • Malpuech Syndrome

    There were five shortened fingers in both hands, all fingers being abnormally widely separated despite partial cutaneous syndactyly of digits 2/3 and 4/5 bilaterally.[slideheaven.com] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com] […] of vaginal atresia and uterine hypoplasia or a bicornuate uterus and renal agenesis. 87, 88 Interestingly, corneal anaesthesia and punctate epithelial opacities have been[jmg.bmj.com]

  • Kaufman Oculocerebrofacial Syndrome

    […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] […] of vaginal atresia and uterine hypoplasia or a bicornuate uterus and renal agenesis. 87, 88 Interestingly, corneal anaesthesia and punctate epithelial opacities have been[jmg.bmj.com]

  • Isolated Agammaglobulinemia

    Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations.[mendelian.co] […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org] hypoplasia Renal agenesis Vesicoureteral reflux Renal insufficiency Dry skin Abnormality of the kidney Congenital cataract Microtia Finger syndactyly Blepharophimosis Abnormality[mendelian.co]

  • Cenani Syndactylism

    The thumb and second digit showed complete, cutaneous syndactyly.[updoc.site] […] of the radius ; Hypoplasia of the ulna ; Micrognathia ; Prominent forehead ; Renal agenesis ; Renal hypoplasia ; Syndactyly Associated Genes LRP4 (Withdrawn symbols: CLSS[mousephenotype.org] agenesis Abnormality of the ribs Renal hypoplasia Congenital hip dislocation Narrow palate Abnormality of dental enamel Hemivertebrae Renal hypoplasia/aplasia Abnormal dermatoglyphics[mendelian.co]

    Missing: Microcephaly (2-3 SD)
  • Renal Agenesis

    The principal genes associated with renal agenesis, hypoplasia and dysplasia are shown in Table I. Table I.[clinicaladvisor.com] Using this data, we estimate about 29 babies are born with renal agenesis/hypoplasia every year in Minnesota.[health.state.mn.us] We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Unilateral Renal Agenesis

    The principal genes associated with renal agenesis, hypoplasia and dysplasia are shown in Table I . Table I.[clinicaladvisor.com] Using this data, we estimate about 29 babies are born with renal agenesis/hypoplasia every year in Minnesota.[health.state.mn.us] […] of kidney, congenital Oligohydramnios sequence Oligomeganephronia Oligomeganephronic hypoplasia of kidney Potter syndrome Renal agenesis Renal agenesis, unilat Single kidney[icd9data.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Polydactyly of a Biphalangeal Thumb

    In postaxial type A, partial cutaneous syndactyly involving digits 4th-5th (or 5th-6th) fingers and 2nd-3rd (or 5th-6th) in toes is a frequent finding (13,5).[docslide.net] Genito-urinary anomalies may include renal agenesis, renal hypoplasia, duplication of the collecting system, ureterocele, ureteral reflux, hypospadias, undescended testicles[codelay.com] […] anomalies syndrome Holt-Oram syndrome Hoyeraal-Hreidarsson syndrome Humeral agenesis/hypoplasia Humero-radial synostosis Humero-radio-ulnar synostosis Humero-ulnar synostosis[se-atlas.de]

    Missing: Microcephaly (2-3 SD)
  • Pallister-Hall Syndrome

    Some patients have mild partial cutaneous syndactyly of a few digits and this spectrum continues through to complete cutaneous syndactyly of all digits, not unlike that seen[ojrd.biomedcentral.com] Additional signs and symptoms include renal malformation (hypoplasia, agenesis, ectopic kidneys, or development of cysts), genitourinary changes (imperforate anus, hydrometrocolpos[symptoma.com] Maternal body mass index and lifestyle exposures and the risk of bilateral renal agenesis or hypoplasia: the National Birth Defects Prevention Study.[emedicine.medscape.com]

    Missing: Microcephaly (2-3 SD)