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: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
    - Osteochondrodysplasias: 592
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Microcephaly: 1471
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Microcephaly: 1471
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Group I Malformations of Cortical Development
        Microcephaly: 1471
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
  - Osteochondrodysplasias: 592
    - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
- Fetal Diseases: 814
  - Fetal Growth Retardation: 5696
    - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Urogenital Diseases: 126
- Female Urogenital Diseases and Pregnancy Complications
  - Pregnancy Complications: 2961
    - Fetal Diseases: 814
      - Fetal Growth Retardation: 5696
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Fetal Growth Retardation: 5696
      - Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33
Nervous System Diseases: 14178
- Nervous System Malformations: 35
  - Malformations of Cortical Development: 376
    - Group I Malformations of Cortical Development
      - Microcephaly: 1471
        Type II Microcephalic Osteodysplastic Primordial Dwarfism: 33

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