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1 OMIM reference -
1 associated gene
5 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
Transient bullous dermolysis of the newborn
Recessive dystrophic epidermolysis bullosa-generalized other

COL7A1 COL7A1


COMMON
GENES
COL7A1



Citations in the biomedical literature:


Transient bullous dermolysis of the newborn
COL7A1
Recessive dystrophic epidermolysis bullosa-generalized other



Transient bullous dermolysis of the newborn
Recessive dystrophic epidermolysis bullosa-generalized other

Synonym(s):
- DEB, bullous dermolysis of the newborn
- DEB-BDN

Synonym(s):
- Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
- Autosomal recessive dystrophic epidermolysis bullosa, generalized other
- Generalized mitis RDEB
- RDEB generalisata mitis
- RDEB, non-Hallopeau-Siemens type
- RDEB-O
- RDEB-generalized other
- Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C536979
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Transient bullous dermolysis of the newborn
Recessive dystrophic epidermolysis bullosa-generalized other

Frequent
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Oral mucosa disease / cheilitis
- Thin skin



Very frequent
- Abnormal fingernails
- Abnormal scarring / cheloids / hypertrophic scars
- Abnormal toenails
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium

Frequent
- Ankyloglossia / lingual synechiae
- Anus / rectum anomalies
- Constipation
- Enanthema / aphtosa / aphta / leukoplakia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Microstomia / little mouth
- Multiple caries
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Occasional
- Alopecia
- Anaemia
- Anomalies of eyelids, eyelashes and lacrimal system
- Corneal ulceration / perforation
- Cryptophthalmia / ankyloblepharon / synblepharon
- Ectropion / entropion / eyelid eversion
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hair and scalp anomalies
- Late puberty / hypogonadism / hypogenitalism
- Musculo-tendinous retractions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Skin hypoplasia / aplasia / atrophy
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Visual loss / blindness / amblyopia