Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional trisomies > trisomy 13

trisomy 13

Wednesday 12 January 2005

Trsiomy 13 is the least common and the most severe of the viable autosomal trisomies.

Synopsis

- craniofacial anomalies

  • microcephalia
  • receding forehead
  • epicanthal folds
  • sparse curled eyelashes
  • midline scalp defects at vertex (cutis aplasia)
  • horizontal palpebral fissures
  • broad and flat nose
  • abnormal ears
    • low-set ears
    • flat ears
    • poorly defined ears
    • microtia
  • ocular anomalies
    • microphthalmia
    • anophthalmia
    • deep-set eyes
    • cataract
    • corneal opacities
    • retinoschisis
    • hypoplasia of optic nerve
    • persistent hyperplastic primary vitreous
    • coloboma of iris or retinal coloboma
    • aniridia
    • retinal dysplasia
    • retinoblastoma
  • hypotelorism
  • incisor teeth present at birth
  • midline facial defects
    • cleft lip / cleft palate
    • absent or malformed nose or proboscis

- cardiovascular malformations (80%)

- cerebral anomalies

  • holoprosencephaly
  • microcephaly
  • heterotopia of striated skeletal muscle and glial tissue in pontine leptomeninges (6548367)

- splenopancreatic field abnormality

  • splenopancreatic fusion
    • ectopic splenic tissue in the cauda pancreatis
    • ectopic pancreatic tissue in the spleen or accessory spleen
    • fusion of the cauda pancreatis and splenic hilum

- urinary anomalies

  • polycystic kidneys (micromulticystic kidneys)
  • renal malformations
  • renal duplication
  • urteral duplications
  • hydronephrosis and hydroureters
  • bilateral nephrogenic rests (nephroblastomatosis) (16177880)
    • loss of Wilms’ tumor gene 1 (WT1) transcript and a biallelic expression of insulin growth factor 2 (IGF2) (16177880)

- male genital anomalies

  • cryptorchidism
  • scrotal anomalies
  • Leydig cell hypoplasia
  • testicular agenesis

- female genital anomalies

  • bicornuate uterus
  • clitoridal hyperplasia
  • double vagina

- omphalocele
- hernias

- skeletal anomalies

  • hypoplastic 12th ribs
  • 12th ribs agenesis
  • hypoplastic pelvis with flattened acetabular angle
  • kyphoscoliosis

- limb anomalies

  • prominent calcaneum
  • rocker-bottom feet
  • postaxial polydactyly of hands or feet (hexadactyly)
  • talipes equinovarus
  • talipes calcaneovalgus
  • flexed fingers
  • retroflexed thumbs
  • clinodactyly of little fingers
  • camptodactyly
  • narrow and hyperconvex nails
  • dermatoglyphic anomalies
    • distal axial triradius
    • single palmar crease (simian line)
    • arch fibular or arch fibular 5 pattern

- capillary hemangiomas (face, forehead, nape of neck)
- hematologic anomalies

  • multiple projections in neutrophilic nuclei
  • increased fetal hemoglobin (HbF)
  • increased Gower-2 hemoglobin

Etiology

- nondisjunction during maternal meiosis

  • a significant association exists between Patau syndrome and increased maternal age

See also

- trisomies

Portfolio

  • Microtia in trisomy 13
  • Microtia in trisomy 13
  • Bilateral cleft lip/palate in trisomy 13
  • Postaxial polydactyly in trisomy 13
  • Postaxial polydactyly in trisomy 13
  • Rocker-bottom feet in trisomy 13
  • Bilateral cleft lip/palate, omphalocele, postaxial polydactyly in trisomy (...)
  • Bilateral cleft lip/palate, omphalocele, postaxial polydactyly in trisomy (...)
  • Bilateral cleft lip/palate, omphalocele, postaxial polydactyly in trisomy (...)
  • Bilateral cleft lip/palate, omphalocele, postaxial polydactyly in trisomy (...)