Mammary-digital-nail syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MDNS
Onycho-digito-mammary syndrome
MDN syndrome
Number of Symptoms 11
OrphanetNr: 238744
OMIM Id: 613689
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Excess breast volume or number
 -Rare gynecologic or obstetric disease
Rare genetic gynecological and obstetrical diseases
 -Rare genetic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0010313) Breast hypertrophy 6 / 7739
2
 (HPO:0001798) Anonychia 28 / 7739
3
 (HPO:0008404) Nail dystrophy 89 / 7739
4
 (HPO:0002164) Nail dysplasia 82 / 7739
5
 (OMIM) Hypoplasia or absence of distal phalanges of great toes 1 / 7739
6
 (OMIM) Absence of all distal creases of second to fifth digits 1 / 7739
7
 (OMIM) Breast hypertrophy, in females 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Hypoplasia of distal phalanges of second to fourth digits 1 / 7739
10
 (OMIM) Absence of distal phalanx of fifth digit 1 / 7739
11
 (OMIM) Thumbs digitalized 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Govrin-Yehudain et al. (2004) reported a 3-generation Druze pedigree in which 4 females presented with juvenile hypertrophy of the breast (JHB; see 113670) and congenital anonychia. They developed rapid and massive breast enlargement at ages 13 to 14 ...
Molecular genetics OMIM In a 3-generation Druze pedigree with mammary-digital-nail syndrome mapping to chromosome 22q12.3-q13.1, originally reported by Govrin-Yehudain et al. (2004), Genzer-Nir et al. (2010) found no mutations in any of 38 candidate genes selected for sequence analysis.