Coffin-Siris syndrome

A hereditary autosomal recessive neurodevelopmental syndrome with broad phenotypic and genetic variability. Affected individuals generally have intellectual disability, coarse facial features, HYPERTRICHOSIS, and hypoplastic or absent fifth fingernails or toenails. Other abnormalities include PTOSIS; CHOANAL ATRESIA, cardiac defects, and genital anomalies. Mutations in components of the SWI/SNF CHROMATIN REMODELING complex have been identified. OMIM: 135900

Also Known As:

Fifth digit syndrome; Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Coffin-Siris syndrome: 33
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Micrognathism: 348
        Coffin-Siris syndrome: 33
    - Congenital Limb Deformities: 8
      - Congenital Upper Extremity Deformities
        Congenital Hand Deformities: 2
        Coffin-Siris syndrome: 33
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 348
        Coffin-Siris syndrome: 33
Body Regions
- Head
  - Face
    - Coffin-Siris syndrome: 33
- Neck
  - Coffin-Siris syndrome: 33
Musculoskeletal Diseases: 751
- Hand Deformities: 72
  - Congenital Hand Deformities: 2
    - Coffin-Siris syndrome: 33
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 348
        Coffin-Siris syndrome: 33
  - Congenital Limb Deformities: 8
    - Congenital Upper Extremity Deformities
      - Congenital Hand Deformities: 2
        Coffin-Siris syndrome: 33
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 348
      - Coffin-Siris syndrome: 33
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Coffin-Siris syndrome: 33
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neurobehavioral Manifestations: 1632
      - Intellectual Disability: 8222
        Coffin-Siris syndrome: 33
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1632
  - Intellectual Disability: 8222
    - Coffin-Siris syndrome: 33
Mental Disorders: 25040
- Neurodevelopmental Disorders: 3318
  - Intellectual Disability: 8222
    - Coffin-Siris syndrome: 33
Stomatognathic Diseases: 725
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 348
      - Coffin-Siris syndrome: 33
- Stomatognathic System Abnormalities
  - Maxillofacial Abnormalities: 10
    - Jaw Abnormalities: 10
      - Micrognathism: 348
        Coffin-Siris syndrome: 33

Efstathia Katsarou-Pectasides Selected Research

Efstathia Katsarou-Pectasides Research Topics

Disease

Drug/Important Bio-Agent (IBA)