KIAA1109

Clinical Characteristics

Mutations in KIAA1109 gene may cause the following signs and symptoms:

  • Abnormalities in the structure of the brain (detected by CT and/or MRI scans)
  • Developmental delay
  • Intellectual disability
  • Speech impairment

Head and neck anomalies

  • Microcephaly (smaller than normal head) or macrocephaly (larger than normal head)
  • Facial dysmorphia, including: increased distance between the eyes, abnormal location of the ears, and a short nose that may be abnormally shaped
  • Eye abnormalities, including: smaller than normal eyes, congenital cataract, drooping of the eyelids, hypermetropia (long-sightedness), crossed eyes, astigmatism, and absence of controlled, voluntary eye movement
  • Mouth abnormalities, including: high-arched palate, dental crowding, and an undersized jaw
  • Webbed neck

Musculoskeletal deformities

  • Muscle atrophy and weakness
  • Contractures of large joints
  • Club foot deformity (abnormal twisting of the foot inward or outward)
  • Bunion (bony bump at the base of the big toe)
  • Cleft foot deformity (rare anomaly that causes missing toes and a V-shaped cleft foot)
  • Abnormally bent or curved finger(s)
  • Webbed or conjoined fingers or toes

Gastrointestinal anomalies

  • Chronic constipation
  • Gastroesophageal reflux
  • Malformations of the anus and rectum
  • Other congenital anomalies of the bowel

Other possible clinical features

  • Epilepsy
  • Skin oedema
  • Non-immune hydrops with scalp oedema
  • Abnormal accumulation of fluid in various areas of the body, including around the lungs, the heart, and the peritoneum (the membrane covering the abdominal organs)
  • Dermatitis
  • Psoriasis
  • Anomalies involving other organ systems, including the heart and kidneys

KIAA1109-related disorder has a very early onset: from birth or early infancy.