Camptodactyly syndrome Guadalajara type I

Synonyms

GCS 1
FTSS
Faciothoracoskeletal syndrome

Overview

A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.

Symptoms

  • Abnormal form of the vertebral bodies
  • Aplasia/Hypoplasia of the earlobes
  • Camptodactyly of finger
  • Dental malocclusion
  • Malar flattening
  • Pectus carinatum
  • Pectus excavatum
  • Telecanthus
  • Retarded growth
  • Short stature
  • Low birth weight
  • Camptodactyly of all fingers
  • Hallux valgus
  • Short toes
  • Facial anomalies
  • Underdeveloped kneecap
  • Short neck
  • Low set ears
  • Small head
  • Abnormal vertebral shape
  • Sunken chest
  • Dislocated hips
  • Underdeveloped pubic region
  • Underdeveloped genitals
  • Clubfoot
  • Low hairline
  • Small ears
  • Webbed toes
  • Scoliosis
  • Short head

Resources

  • NIH