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Camptodactyly syndrome, Guadalajara type 1

Disease definition

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.

ORPHA:1327

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.1
  • OMIM: 211910
  • UMLS: C1859359
  • MeSH: C537970
  • GARD: 1067
  • MedDRA: -

Summary

Epidemiology

To date only eight cases have been reported in the literature.

Clinical description

Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed.

Genetic counseling

The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.

- Last update: October 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.