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Orphanet classification of rare developmental anomalies during embryogenesis

Rare developmental defect during embryogenesis ORPHA:93890
- Rare developmental defect with skin/mucosae involvement ORPHA:139027
  - Cutis laxa ORPHA:209
    - Arterial tortuosity syndrome ORPHA:3342
    - Autosomal dominant cutis laxa ORPHA:90348
    - Autosomal recessive cutis laxa type 1 ORPHA:90349
    - Autosomal recessive cutis laxa type 2 ORPHA:90350
    - Craniofaciofrontodigital syndrome ORPHA:363705
    - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
    - De Barsy syndrome ORPHA:2962
    - Geroderma osteodysplastica ORPHA:2078
    - Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
    - Occipital horn syndrome ORPHA:198
    - RIN2 syndrome ORPHA:217335
    - SCARF syndrome ORPHA:3134

Rare developmental defect during embryogenesis ORPHA:93890
- Rare developmental defect with connective tissue involvement ORPHA:139030
  - Cutis laxa ORPHA:209
    - Arterial tortuosity syndrome ORPHA:3342
    - Autosomal dominant cutis laxa ORPHA:90348
    - Autosomal recessive cutis laxa type 1 ORPHA:90349
    - Autosomal recessive cutis laxa type 2 ORPHA:90350
    - Craniofaciofrontodigital syndrome ORPHA:363705
    - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
    - De Barsy syndrome ORPHA:2962
    - Geroderma osteodysplastica ORPHA:2078
    - Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
    - Occipital horn syndrome ORPHA:198
    - RIN2 syndrome ORPHA:217335
    - SCARF syndrome ORPHA:3134

Rare developmental defect during embryogenesis ORPHA:93890
- Diaphragmatic or abdominal wall malformation ORPHA:98043
  - Syndromic diaphragmatic or abdominal wall malformation ORPHA:108979
    - Cutis laxa ORPHA:209
      - Arterial tortuosity syndrome ORPHA:3342
      - Autosomal dominant cutis laxa ORPHA:90348
      - Autosomal recessive cutis laxa type 1 ORPHA:90349
      - Autosomal recessive cutis laxa type 2 ORPHA:90350
      - Craniofaciofrontodigital syndrome ORPHA:363705
      - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
      - De Barsy syndrome ORPHA:2962
      - Geroderma osteodysplastica ORPHA:2078
      - Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
      - Occipital horn syndrome ORPHA:198
      - RIN2 syndrome ORPHA:217335
      - SCARF syndrome ORPHA:3134

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