Meier-Gorlin syndrome

A rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, MICROCEPHALY, bilateral microtia, and aplasia or hypoplasia of the patellae. DWARFISM is the most common feature and the others occur with less frequency; affected individuals usually have normal intellect. Mutations in the ORC1 gene have been identified. OMIM: 601902

Also Known As:

Ear, patella, short stature syndrome; Microtia, absent patellae, micrognathia syndrome

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Meier-Gorlin syndrome: 15
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 338
        Meier-Gorlin syndrome: 15
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 338
      - Meier-Gorlin syndrome: 15
Stomatognathic Diseases: 705
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 338
      - Meier-Gorlin syndrome: 15
- Stomatognathic System Abnormalities
  - Maxillofacial Abnormalities: 10
    - Jaw Abnormalities: 10
      - Micrognathism: 338
        Meier-Gorlin syndrome: 15
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Congenital Microtia: 340
    - Meier-Gorlin syndrome: 15
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Micrognathism: 338
        Meier-Gorlin syndrome: 15
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 338
        Meier-Gorlin syndrome: 15
Musculoskeletal System
- Skeleton
  - Bone and Bones
    - Bones of Lower Extremity
      - Leg Bones
        Patella
        Meier-Gorlin syndrome: 15
    - Sesamoid Bones
      - Patella
        Meier-Gorlin syndrome: 15
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Congenital Microtia: 340
    - Meier-Gorlin syndrome: 15

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Disease

Drug/Important Bio-Agent (IBA)