loading...| Preferred Name |
Kenny-Caffey syndrome |
| 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 |
OMIM:127000 OMIM:244460 MeSH:C537020 ICD-10:Q87.1 UMLS:C0265291 |
| label |
Kenny-Caffey syndrome |
| notation |
ORPHA:2333 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_93440 |
| prefixIRI |
ORDO:Orphanet_2333 |
| prefLabel |
Kenny-Caffey syndrome |
| present_in |
Worldwide AND has_cases/families_value : 65.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_93440 |
| subClassOf |