KERATOCONUS POSTICUS CIRCUMSCRIPTUS

General Information (adopted from Orphanet):

Synonyms, Signs: KPC KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED
Number of Symptoms 22
OrphanetNr:
OMIM Id: 244600
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:0000010) Recurrent urinary tract infections 56 / 7739
2
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
3
 (HPO:0000470) Short neck 345 / 7739
4
 (HPO:0000202) Oral cleft 120 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000204) Cleft upper lip 193 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0000465) Webbed neck 81 / 7739
9
 (HPO:0008511) Central posterior corneal opacity 1 / 7739
10
 (HPO:0000563) Keratoconus 25 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0005852) Limited elbow extension and supination 1 / 7739
13
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
14
 (HPO:0005640) Abnormal vertebral segmentation and fusion 2 / 7739
15
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
16
 (HPO:0001510) Growth delay 295 / 7739
17
 (OMIM) Posterior corneal depression 1 / 7739
18
 (MedDRA:10072883) Brachydactyly 153 / 7739
19
 (OMIM) Stubby limbs 1 / 7739
20
 (OMIM) Corneal nebulae 1 / 7739
21
 (OMIM) Short 'bull' neck 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: