DOCK6

Clinical Characteristics

The clinical features of this disease, per organ system, include:

Central Nervous System (CNS)

  • Hypotonia
  • Seizures
  • Psychomotor retardation
  • Dilation and calcification of brain ventricles
  • Other rarer manifestations:
    • Brain atrophy
    • Cerebellar hypoplasia
    • Polymicrogyria
    • Retrocerebellar cyst

Head and Neck

  • Microcephaly
  • Aplasia cutis congenita of the scalp
  • Dysmorphic facial features (some patients), including:
    • Hypertelorism
    • Small palpebral fissures
    • Low set ears
    • Low hair line
    • Micrognathia
    • Depressed nasal bridge
    • Bulbous nasal tip
  • Other rarer manifestations:
    • Prominent ears
    • Strabismus
    • Microphthalmia
    • Congenital cataract
    • Optic atrophy
    • Congenital vitreoretinal abnormalities
    • Macrocephaly

Skeletal

  • Terminal transverse limb defects
  • Shortened digits of the hands and feet
  • Distorted palmar creases
  • Interdigital webbing

Skin and Nails

  • Aplasia cutis congenita of the abdomen (some patients)
  • Cutis marmorata
  • Prominent extremities, trunk, and scalp veins
  • Hypoplastic nails

Other(s)

  • Oligohydramnios
  • Lymphedema of the upper or lower extremities (rare)
  • Aortic valve dysplasia (rare)