ORPHA:2333

Kenny-Caffey syndrome

Synonyms: Kenny syndrome

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Childhood
Status: active

A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Kenny-Caffey syndrome	Kenny syndrome
fr	Syndrome de Kenny-Caffey	Syndrome de Kenny
de	Kenny-Caffey-Syndrom	Kenny-Syndrom
es	Síndrome de Kenny-Caffey	Síndrome de Kenny
it	Sindrome di Kenny-Caffey	Sindrome di Kenny
nl	Syndroom van Kenny-Caffey	Syndroom van Kenny
pt	Síndrome Kenny-Caffey	Síndrome Kenny
pl	Zespół Kenny'ego i Caffey'a	Zespół Kenny'ego
cs	Kennyho-Caffeyův syndrom	Kennyho syndrom · Kenny-Caffeyův syndrom
uk	Синдром Кенні-Кеффі	Синдром Кенні
zh	Kenny-Caffey综合征	Kenny综合征
tr	Kenny-Caffey sendromu	Kenny sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	127000	BTNT		validated
OMIM	244460	BTNT		validated
ICD-10	Q87.1	NTBT	attributed	validated
ICD-11	LD24.D	NTBT	attributed	validated
MONDO	0016516	E		validated
UMLS	C0265291	E		validated
MedDRA	10073228	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93419Rare bone disease

Parents in the classifications (4):

ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases
ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis
ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases

Children (2):

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FAM111A	ORPHA:93325Autosomal dominant Kenny-Caffey syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:24725	ENSG00000166801	615292	11q12.1	FAM111 trypsin like peptidase A	23684011[PMID]
TBCE	ORPHA:93324Autosomal recessive Kenny-Caffey syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:11582	ENSG00000284770	604934	1q42.3	tubulin folding cofactor E	12389028[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		65 cases	Worldwide	Case(s)	Validated	22522175[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2333
This record as JSON: /data/d/2333.json