Orphanet: Ulna hypoplasia intellectual disability syndrome
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Ulna hypoplasia-intellectual disability syndrome

Disease definition

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

ORPHA:2249

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 276821
  • UMLS: -
  • MeSH: C536934
  • GARD: 5398
  • MedDRA: -

Summary

Epidemiology

It has been reported in two sibs.

Genetic counseling

The family is suggestive of autosomal recessive inheritance.

Prognosis

Prognosis is poor.

- Last update: September 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.