ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
9 signs/symptoms

Naegeli-Franceschetti-Jadassohn syndrome

Autosomal recessive epidermolysis bullosa simplex

KRT14	(UniProt - OMIM)		DST	(UniProt - OMIM)
			KRT14	(UniProt - OMIM)

Citations in the biomedical literature:

Naegeli-Franceschetti-Jadassohn syndrome		Autosomal recessive epidermolysis bullosa simplex
	Synonym(s): - NFJ syndrome - Naegeli syndrome		Synonym(s): - EBS-AR

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

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Palmoplantar hyperkeratosis / keratoderma

Naegeli-Franceschetti-Jadassohn syndrome		Autosomal recessive epidermolysis bullosa simplex
	Very frequent - Autosomal dominant inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Irregular / in bands / reticular skin hyperpigmentation		Very frequent - Autosomal recessive inheritance - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal erosion / resorption of teeth / odontolysis - Anaemia - Failure to thrive / difficulties for feeding in infancy / growth delay - Multiple caries - Nails anomalies Occasional - Ichthyosis / ichthyosiform dermatitis