Ectrodactyly-cleft lip-palate syndrome

An autosomal dominant hereditary condition characterized by facial malformations such as cleft lip and palate, malformed or small ears and hearing loss, eye abnormalities and photophobia, tooth agenesis and microdontia, SYNDACTYLY; and genitourinary abnormalities. It is associated with chromosomal rearrangements in the 7q11.2-q21.3 region of chromosome 7. OMIM: 129900

Also Known As:

Cleft lip-cleft palate-lobster claw deformity syndrome; EEC syndrome; Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; Rudiger syndrome 1; Walker-Clodius syndrome

Stomatognathic Diseases: 705
- Mouth Diseases: 98
  - Lip Diseases: 3
    - Cleft Lip: 3330
      - Ectrodactyly-cleft lip-palate syndrome: 29
  - Mouth Abnormalities: 1
    - Cleft Lip: 3330
      - Ectrodactyly-cleft lip-palate syndrome: 29
    - Cleft Palate: 2757
      - Ectrodactyly-cleft lip-palate syndrome: 29
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Cleft Palate: 2757
      - Ectrodactyly-cleft lip-palate syndrome: 29
- Stomatognathic System Abnormalities
  - Maxillofacial Abnormalities: 10
    - Jaw Abnormalities: 10
      - Cleft Palate: 2757
        Ectrodactyly-cleft lip-palate syndrome: 29
  - Mouth Abnormalities: 1
    - Cleft Lip: 3330
      - Ectrodactyly-cleft lip-palate syndrome: 29
    - Cleft Palate: 2757
      - Ectrodactyly-cleft lip-palate syndrome: 29
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Ectodermal Dysplasia: 505
      - Ectrodactyly-cleft lip-palate syndrome: 29
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Ectrodactyly-cleft lip-palate syndrome: 29
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Cleft Palate: 2757
        Ectrodactyly-cleft lip-palate syndrome: 29
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Cleft Palate: 2757
        Ectrodactyly-cleft lip-palate syndrome: 29
    - Mouth Abnormalities: 1
      - Cleft Lip: 3330
        Ectrodactyly-cleft lip-palate syndrome: 29
      - Cleft Palate: 2757
        Ectrodactyly-cleft lip-palate syndrome: 29
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Ectrodactyly-cleft lip-palate syndrome: 29
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Cleft Palate: 2757
        Ectrodactyly-cleft lip-palate syndrome: 29
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Cleft Palate: 2757
      - Ectrodactyly-cleft lip-palate syndrome: 29
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Ectrodactyly-cleft lip-palate syndrome: 29
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Ectrodactyly-cleft lip-palate syndrome: 29

Paola Nardiello Selected Research

Paola Nardiello Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure