Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Kenny-Caffey syndrome

Synonyms

Kenny syndrome

Definitions

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.

ID

http://www.orpha.net/ORDO/Orphanet_2333

alternative_term

Kenny syndrome

definition

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333

has_age_of_onset

Childhood

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-10:Q87.1

OMIM:127000

OMIM:244460

UMLS:C0265291

MedDRA:10073228

label

Kenny-Caffey syndrome

notation

ORPHA:2333

part_of

http://www.orpha.net/ORDO/Orphanet_183570

http://www.orpha.net/ORDO/Orphanet_139021

http://www.orpha.net/ORDO/Orphanet_93440

http://www.orpha.net/ORDO/Orphanet_181402

prefixIRI

ORDO:Orphanet_2333

prefLabel

Kenny-Caffey syndrome

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 65.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_183570

http://www.orpha.net/ORDO/Orphanet_139021

http://www.orpha.net/ORDO/Orphanet_93440

http://www.orpha.net/ORDO/Orphanet_181402

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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