Search for a rare disease
Other search option(s)
Ulna hypoplasia-intellectual disability syndrome
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:2249Classification level: Disorder
It has been reported in two sibs.
The family is suggestive of autosomal recessive inheritance.
Prognosis is poor.
A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)
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.