KIAA1109

Clinical Characteristics

The clinical features of this disease include:

Cerebral anomalies

  • Severe cerebral parenchymal thinning with lissencephalic aspect
  • Parenchymal rarefaction
  • Mild to severe ventriculomegaly
  • Cerebellar hypoplasia
  • Brainstem dysgenesis (sometimes characterized by a kinking aspect and a flat, elongated pons)
  • Prominent germinal matrix
  • Corpus callosum agenesis
  • White matter neuronal heterotopia
  • Hydrocephalus

Head and neck anomalies

  • Microcephaly
  • Macrocephaly
  • Plagiocephaly
  • Hypertelorism
  • Posteriorly rotated ears
  • Low-set ears
  • Webbed neck
  • Nuchal thickening
  • Short nose
  • Anteverted nares
  • Flattened nasal bridge
  • Eye abnormalities (microphthalmia, congenital cataract, blepharophimosis, hypermetropia, strabismus, astigmatism, oculomotor apraxia)
  • Mouth abnormalities (high-arched palate, dental crowding, micrognathia, retrognathism)

Musculoskeletal deformities

  • Muscle atrophy and hypotonia
  • Contractures of large joints
  • Arthrogryposis
  • Bilateral talipes equinovarus or valgus
  • Hallux valgus
  • Cleft foot
  • Clinodactyly
  • Syndactyly of 2nd and 3rd toes
  • Hand and foot paretic position
  • Hyperflexed wrist

Gastrointestinal anomalies

  • Chronic constipation
  • Gastroesophageal reflux
  • Choanal atresia
  • Anorectal malformation
  • Malrotated bowel

Urogenital anomalies

  • Abnormal kidneys
  • Short penis with bulbous shaft
  • Scrotum hypoplasia

Heart anomalies

  • Tetralogy of Fallot
  • Pericardial effusion
  • Left heart hypoplasia
  • Coarctation of the aorta
  • Atrial septal defect

Other possible clinical features

  • Early-onset epilepsy
  • Skin oedema
  • Non-immune hydrops with scalp oedema
  • Cystic hygroma
  • Pleural effusion
  • Peritoneal effusion
  • Dilation of lymph vessels in lung
  • Dermatitis
  • Psoriasis