Naegeli-Franceschetti-Jadassohn syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME
NFJS
Naegeli syndrome
nfj syndrome
Number of Symptoms 16
OrphanetNr: 69087
OMIM Id: 161000
ICD-10: Q82.4
UMLs:
MeSH:
MedDRA:
Snomed: 239084001

Prevalence, inheritance and age of onset:

Prevalence: 0.035 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth 145 / 7739
2
 (HPO:0006480) Premature loss of teeth 23 / 7739
3
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
4
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
5
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
6
 (HPO:0001808) Fragile nails 21 / 7739
7
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
8
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
9
 (HPO:0000966) Hypohidrosis 41 / 7739
10
 (HPO:0007588) Reticular hyperpigmentation 9 / 7739
11
 (HPO:0002046) Heat intolerance 13 / 7739
12
 (OMIM) Multiple, small punctate keratoses (palms and soles) 1 / 7739
13
 (OMIM) Congenital malalignment of great toenails 1 / 7739
14
 (OMIM) Yellow discoloration 2 / 7739
15
 (OMIM) Absent fingerprints 1 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Naegeli (1927) described the syndrome in a father and 2 daughters. In a restudy of the original family, Franceschetti and Jadassohn (1954) documented autosomal dominant inheritance. The disorder was earlier confused with incontinentia pigmenti (IP; see 308300). Differences ...
Molecular genetics OMIM To determine the molecular basis of NJFS and the closely related disorder dermatopathia pigmentosa reticularis (DPR; 125595), Lugassy et al. (2006) studied 1 family with DPR and 4 families with NFJS. They first confirmed the previously demonstration of ...