Woman affected by oculodentodigital syndrome or ODDD syndrome.Synonyms

  • ODDD
  • ODD Syndrome
  • Oculotdentoosseous dysplasias (ODOD)

Oculodentodigital Syndrome (ODDD)  is a Rare Genetic Condition Characterized by

  • A typical facial appearance
  • Variable eye, tooth and finger involvement

Teeth

  • Enamel hypoplasia
  • Selective missing teeth
  • Small teeth
  • Premature loss of teeth
  • Dental caries
  • Taurodontism (pulp chamber in molar teeth is enlarged – reported in 1 patient)

Skin/Hair

Eyes

  • Small cornea
  • Small eyes
  • Short opening between the eye lids
  • Skin fold of the upper eyelid, covering the inner corner of the eye
  • Glaucoma
  • Cataract
  • Iris anomalies

Head

  • Microcephaly (small head)

Ears

  • Abnormally shaped ears (in some patients)
  • Hearing loss, conductive

Nose

  • Small nares
  • Thin hypoplastic alae nasi
  • Narrow nasal bridge
  • Thin, up-turned nasal tip
  • Thin flap on the outer side of each nostril
  • Prominent columnella (The tissue that links the nasal tip to the nasal base, and separates the nares. It is the inferior margin of the nasal septum.)

Mouth

  • Cleft lip (1 case)
  • Cleft palate (more common than general population)
  • Broad alveolar ridges

Heart

  • Rare defects

Abdomen

  • Bowel dysfunction in some cases

Genitourinary

  • Neurogenic bladder is some cases

Skull

  • Excessive growth of bones in skull

Spine

  • Excessive bone growth in spine

Pelvis

  • Hip dislocation

Limbs

  • The forearm is angled away from the body to a greater degree than normal when fully extended.
  • The legs (the femur, tibia and fibula) are all long bones.
  • The major bones of the arms (humerus, radius, and ulna) are broad.

Hands

  • Abnormal shaped fingers
  • Bent fifth finger
  • Short middle phalanx (longest bone) of the 5th finger
  • Short middle phalanx of the 5th finger
  • Syndactyly of 4th – 5th fingers (fused)

Feet

  • Syndactyly of 3rd – 4th toes

Neurologic

  • Ataxia (lack of voluntary coordination of muscle movements that includes gait abnormality.)
  • Basal ganglia calcification (calcium deposits in the basal ganglia)
  • Cerebral white matter abnormalities
  • Dysarthria (a motor speech disorder characterized by poor articulation)
  • Hyperactive deep tendon reflexes
  • Mental retardation (rare)
  • Neurogenic bladder (lacking bladder control due to a brain, spinal cord, or nerve condition.)
  • Paraparesis (partial paralysis of the lower extremities)
  • Quadriparesis (Weakness of all four limbs, both arms and both legs)
  • Seizures
  • Spasticity (unusual “tightness”, stiffness, or “pull” of muscles.)

Miscellaneous

  • Variable clinical symptoms
  • Cardiac features are observed in ~3% of cases
  • Neurologic features have been diagnosed in ~30% of cases

Diagnosing ODDD Syndrome

A physician can diagnose oculodentodigital syndrome on the basis of physical features.

Causes of ODDD Syndrome

ODDD is a condition caused by a change in the connexin 43 gene GJA1. A parent may pass the gene to a child or the gene can change in a child without either parent having the gene.

Genetic Testing

Testing is available for ODDD syndrome.

Inheritance

Oculodentodigital syndrome is an autosomal dominant condition. An affected individual has a 50% chance of passing the gene to a son or daughter.

Learn more about ODDD syndrome at Online Mendelian Inheritance in Man and Genetics Home Reference.