Congenital onychodysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ONYCHODYSPLASIA, ISOLATED CONGENITAL
COIF
NDNC7
Congenital onychodysplasia of the index fingers
Iso-Kikuchi syndrome
COIF syndrome
Number of Symptoms 8
OrphanetNr: 79144
OMIM Id: 605779
ICD-10: Q84.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated nail anomaly
 -Rare genetic disease
 -Rare skin disease
Syndromic nail anomaly
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001598) Concave nail 14 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
 (MedDRA:10072590) Platonychia 2 / 7739
4
 (OMIM) Lunulae poorly developed or absent 1 / 7739
5
 (OMIM) Free margin notched or split 1 / 7739
6
 (OMIM) Reddish dome-shaped prominence at origin of ridges (in some nails) 1 / 7739
7
 (OMIM) Longitudinal angular ridges 1 / 7739
8
 (OMIM) Thinning of nail plate 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Isolated congenital onychodysplasia, here referred to as nonsyndromic congenital nail disorder-7 (NDNC7), is characterized by longitudinal streaks, thinning, and impaired formation of the nail plates leading to increased vulnerability of the free nail margins. The most characteristic finding ...
Clinical Description OMIM Hamm et al. (2000) characterized an unusual congenital nail dysplasia in a large kindred from southern Germany. They described the history and clinical features in 22 affected family members (13 females and 9 males, aged 5 to 74 ...