ODCs

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1 associated gene
6 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
30 signs/symptoms

Acral dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa inversa

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Recessive dystrophic epidermolysis bullosa inversa
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - Dystrophic epidermolysis bullosa inversa - Inverse RDEB - Inverse recessive dystrophic epidermolysis bullosa - RDEB-I

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Acral dystrophic epidermolysis bullosa		Recessive dystrophic epidermolysis bullosa inversa
	Very frequent - Autosomal dominant inheritance - Nails anomalies		Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Ankyloglossia / lingual synechiae - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Oral mucosa disease / cheilitis Frequent - Abnormal toenails - Anaemia - Corneal ulceration / perforation - External auditory canal atresia / stenosis / agenesis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional anomalies of the genital system - Hearing loss / hypoacusia / deafness - Joint / articular deformation - Microstomia / little mouth - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Occasional - Anus / rectum anomalies - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Constipation - Failure to thrive / difficulties for feeding in infancy / growth delay - Renal disease / nephropathy - Renal failure - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Weight loss / loss of appetite / break in weight curve / general health alteration