Type II Microcephalic Osteodysplastic Primordial Dwarfism

A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (OMIM: 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild INTELLECTUAL DISABILITY. Mutations in the PCNT gene have been identified. OMIM: 210720

Also Known As:

Microcephalic Osteodysplastic Primordial Dwarfism, Type II; MOPD II; Majewski Osteodysplastic Primordial Dwarfism Type II; Microcephalic Osteodysplastic Primordial Dwarfism Type II; Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities; Microcephalic osteodysplastic primordial dwarfism, type 2; Mopd2; MopdII; Osteodysplastic Primordial Dwarfism Type Ii; Osteodysplastic Primordial Dwarfism, Type II; Osteodysplastic primordial dwarfism, type 2

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Dwarfism: 1206
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
    - Osteochondrodysplasias: 604
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Microcephaly: 1507
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Microcephaly: 1507
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
  - Nervous System Malformations: 36
    - Malformations of Cortical Development: 383
      - Group I Malformations of Cortical Development
        Microcephaly: 1507
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
- Inborn Genetic Diseases: 12342
  - Dwarfism: 1206
    - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
  - Osteochondrodysplasias: 604
    - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
- Fetal Diseases: 821
  - Fetal Growth Retardation: 5816
    - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Endocrine System Diseases: 996
- Dwarfism: 1206
  - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Urogenital Diseases: 129
- Female Urogenital Diseases and Pregnancy Complications
  - Pregnancy Complications: 3050
    - Fetal Diseases: 821
      - Fetal Growth Retardation: 5816
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Growth Disorders: 2351
    - Fetal Growth Retardation: 5816
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Nervous System Diseases: 14737
- Nervous System Malformations: 36
  - Malformations of Cortical Development: 383
    - Group I Malformations of Cortical Development
      - Microcephaly: 1507
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33

Ozlem Giray Bozkaya Selected Research

Ozlem Giray Bozkaya Research Topics

Disease

Drug/Important Bio-Agent (IBA)