Kenny-Caffey syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Kenny syndrome
Number of Symptoms 43
OrphanetNr: 2333
OMIM Id: 127000
244460
ICD-10: Q87.1
UMLs: C0265291
MeSH: C537020
MedDRA:
Snomed: 82837002

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with short stature
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Slender bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with hypoparathyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
3
 (HPO:0000280) Coarse facial features Occasional [Orphanet] 189 / 7739
4
 (HPO:0000256) Macrocephaly 298 / 7739
5
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
6
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
7
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
8
 (HPO:0011220) Prominent forehead 137 / 7739
9
 (HPO:0000568) Microphthalmia 183 / 7739
10
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
11
 (HPO:0000446) Narrow nasal bridge Occasional [Orphanet] 29 / 7739
12
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
13
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
14
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
15
 (HPO:0000519) Congenital cataract 73 / 7739
16
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
17
 (HPO:0001085) Papilledema 31 / 7739
18
 (HPO:0007862) Retinal calcification 2 / 7739
19
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
20
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
21
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
22
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
23
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
25
 (HPO:0000829) Hypoparathyroidism 22 / 7739
26
 (HPO:0005108) Abnormality of the intervertebral disk Frequent [Orphanet] 12 / 7739
27
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
28
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
29
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
30
 (HPO:0011001) Increased bone mineral density 78 / 7739
31
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
32
 (HPO:0100253) Abnormality of the medullary cavity of the long bones 1 / 7739
33
 (HPO:0002135) Basal ganglia calcification 37 / 7739
34
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
35
 (HPO:0001518) Small for gestational age 107 / 7739
36
 (HPO:0003510) Severe short stature 90 / 7739
37
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
38
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
39
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
40
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
41
 (HPO:0008285) Transient hypophosphatemia 1 / 7739
42
 (HPO:0001620) High pitched voice rare [HPO:skoehler] 32 / 7739
43
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: