ONYCHOTRICHODYSPLASIA AND NEUTROPENIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr:
OMIM Id: 258360
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007665) Curly eyelashes 6 / 7739
2
 (HPO:0010764) Short eyelashes 3 / 7739
3
 (HPO:0007691) Short curly eyelashes 1 / 7739
4
 (HPO:0007717) Chronic irritative conjunctivitis 1 / 7739
5
 (HPO:0001256) Intellectual disability, mild 141 / 7739
6
 (HPO:0001806) Onycholysis 20 / 7739
7
 (HPO:0002225) Sparse pubic hair 76 / 7739
8
 (HPO:0001804) Hypoplastic fingernail 62 / 7739
9
 (HPO:0001598) Concave nail 14 / 7739
10
 (HPO:0002212) Curly hair 21 / 7739
11
 (HPO:0009886) Trichorrhexis nodosa 12 / 7739
12
 (HPO:0001875) Neutropenia 83 / 7739
13
 (HPO:0100827) Lymphocytosis 5 / 7739
14
 (HPO:0002719) Recurrent infections 107 / 7739
15
 (OMIM) Mild psychomotor retardation 3 / 7739
16
 (OMIM) Short hair 2 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Head hair absent at birth 1 / 7739
19
 (OMIM) Trichorrhexis on hair microscopy 1 / 7739
20
 (OMIM) No axillary hair 2 / 7739
21
 (OMIM) Dry lusterless hair 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cantu et al. (1975) described a male infant with consanguineous parents and a previously undescribed syndrome consisting of hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation.

In 2 daughters, and perhaps a third, of first-cousin parents, ...