Autosomal recessive Kenny-Caffey syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE
KCS1
KCS
Number of Symptoms 33
OrphanetNr: 93324
OMIM Id: 244460
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Kenny-Caffey syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000670) Carious teeth 145 / 7739
3
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
4
 (HPO:0004331) Decreased skull ossification 31 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
7
 (HPO:0000829) Hypoparathyroidism 22 / 7739
8
 (HPO:0008198) Congenital hypoparathyroidism 3 / 7739
9
 (HPO:0200055) Small hand 71 / 7739
10
 (HPO:0001773) Short foot 86 / 7739
11
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
12
 (HPO:0003100) Slender long bone 45 / 7739
13
 (HPO:0004279) Short palm 323 / 7739
14
 (HPO:0000890) Long clavicles 13 / 7739
15
 (HPO:0006645) Thin clavicles 4 / 7739
16
 (HPO:0005450) Calvarial osteosclerosis 2 / 7739
17
 (HPO:0000883) Thin ribs 31 / 7739
18
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
19
 (HPO:0003508) Proportionate short stature 12 / 7739
20
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
21
 (HPO:0001903) Anemia 289 / 7739
22
 (HPO:0002917) Hypomagnesemia 19 / 7739
23
 (HPO:0002901) Hypocalcemia 56 / 7739
24
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
25
 (HPO:0001281) Tetany 20 / 7739
26
 (OMIM) Absent diploic space 1 / 7739
27
 (OMIM) Birth weight <2,500gm 2 / 7739
28
 (OMIM) Internal cortical thickening 1 / 7739
29
 (OMIM) Medullary stenosis of tubular bones 1 / 7739
30
 (OMIM) Low to low-normal magnesium 1 / 7739
31
 (OMIM) Long, thin clavicles 2 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (OMIM) Broad cheeks 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Franceschini et al. (1992) suggested autosomal recessive inheritance of Kenny-Caffey syndrome in female and male sibs, born of normal consanguineous parents. The sister died at 10 days of age with generalized hypertonic seizures associated with hypocalcemia. The later-born ...
Molecular genetics OMIM Parvari et al. (2002) demonstrated mutations in the TBCE gene in both Kenny-Caffey syndrome and Sanjad-Sakati syndrome (see 604934.0001).