KBG syndrome

A hereditary autosomal dominant devleopmental disorder characterized by macrodontia of the upper central INCISORS, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, SEIZURES; and INTELLECTUAL DISABILITY. Mutations in the ANKRD11 gene have been identified. OMIM: 148050

Also Known As:

Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - KBG syndrome: 22
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 33
      - KBG syndrome: 22
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - KBG syndrome: 22
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - KBG syndrome: 22
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - KBG syndrome: 22
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        KBG syndrome: 22
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - KBG syndrome: 22
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - KBG syndrome: 22
Stomatognathic Diseases: 705
- Tooth Diseases: 33
  - Tooth Abnormalities: 33
    - KBG syndrome: 22
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 33
    - KBG syndrome: 22

Maddalena Di Nardo Selected Research

Maddalena Di Nardo Research Topics

Disease

Drug/Important Bio-Agent (IBA)