Acrodysostosis

ACRDYS1 is a hereditary autosomal dominant form of skeletal dysplasia characterized by short stature, severe BRACHYDACTYLY, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and OBESITY. Laboratory studies show resistance to multiple hormones, including PARATHYROID HORMONE; THYOTROPIN; CALCITONIN; GROWTH HORMONE-RELEASING HORMONE, and GONADOTROPIN in some patients. Mutations in the PRKAR1A gene have been identified. OMIM: 101800. ACRDYS2 is autosomal dominant and is characterized by brachydactyly, facial dysostosis, and SPINAL STENOSIS, as well as hormone resistance and INTELLECTUAL DISABILITY. It is caused by mutations in the PDE4D gene. OMIM: 614613

Also Known As:

ACRDYS1; ACRDYS2; Acrodysostosis 1 with or without hormone resistance; Acrodysostosis 2, with or without hormone resistance; Acrodysplasia; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; Peripheral Dysostosis; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Acrodysostosis: 49
    - Dysostoses: 91
      - Acrodysostosis: 49
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Acrodysostosis: 49
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Acrodysostosis: 49
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Acrodysostosis: 49
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Acrodysostosis: 49
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Acrodysostosis: 49

E Clauser Selected Research

E Clauser Research Topics

Disease

Drug/Important Bio-Agent (IBA)