Rare Diseases Symptoms Automatic Extraction

Oral manifestations of patients with Kenny-Caffey Syndrome.

[oligodontia]

Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new individuals with KCS, are described focusing on oral findings. All cases had short roots and showed dental anomalies as hypo/oligodontia, microdontia. Dental anomalies are a constant feature in KCS, further study is required to better delineate the syndrome.

Diseases presenting "short stature" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aromatase deficiency
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dentin dysplasia
  • dentinogenesis imperfecta
  • fabry disease
  • hirschsprung disease
  • holt-oram syndrome
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • monosomy 21
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • proteus syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated