Autosomal dominant Kenny-Caffey syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA
KENNY SYNDROME
KCS2
Number of Symptoms 26
OrphanetNr: 93325
OMIM Id: 127000
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[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:0011220) Prominent forehead 137 / 7739
2
 (HPO:0000256) Macrocephaly 298 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
5
 (HPO:0000519) Congenital cataract 73 / 7739
6
 (HPO:0000540) Hypermetropia 99 / 7739
7
 (HPO:0001085) Papilledema 31 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0000829) Hypoparathyroidism 22 / 7739
10
 (HPO:0002135) Basal ganglia calcification 37 / 7739
11
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
12
 (HPO:0011001) Increased bone mineral density 78 / 7739
13
 (HPO:0001518) Small for gestational age 107 / 7739
14
 (HPO:0003510) Severe short stature 90 / 7739
15
 (HPO:0001903) Anemia 289 / 7739
16
 (HPO:0001620) High pitched voice 32 / 7739
17
 (OMIM) Normal intelligence 81 / 7739
18
 (OMIM) Small to absent parathyroid glands 1 / 7739
19
 (OMIM) Defective dentition (in some patients) 1 / 7739
20
 (OMIM) Microorchidism 1 / 7739
21
 (OMIM) Dense tubular bones and narrow marrow cavities 1 / 7739
22
 (OMIM) Tetany, hypocalcemic, episodic 1 / 7739
23
 (OMIM) Corneal and retinal calcification 1 / 7739
24
 (OMIM) Low calcitonin 1 / 7739
25
 (OMIM) Hyperphosphatemia, transient 1 / 7739
26
 (OMIM) Hypocalcemia, transient 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The major features of Kenny-Caffey syndrome are proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of anterior fontanel, eye abnormalities, and transient hypocalcemia. Intelligence is normal (Kenny and Linarelli, 1966; Caffey, 1967). ...
Clinical Description OMIM Kenny and Linarelli (1966) described mother and son who were markedly dwarfed with dense tubular bones and narrow marrow cavities. Both had self-limited bouts of hypocalcemia and hyperphosphatemia documented at age 39 years in the mother and age ...
Molecular genetics OMIM In 5 patients with autosomal dominant Kenny-Caffey syndrome and 5 patients with gracile bone dysplasia (602361), Unger et al. (2013) identified heterozygosity for 6 mutations in the FAM111A gene (615292.0001-615292.0006, respectively). In the 7 families in which DNA ...