[MIM 607 694, 614 381]

(Ataxia-hypodontia-hypomyelination)

Acronym for Hypomyelinisation Hypogonatropic Hypogonadism Hypodontia.

Very rare. Autosomal recessive transmission of a mutation of the POR3A or B gene (10q22.3). Demyelinating leukodystrophy. The first signs and symptoms generally appear after one year of age, or even later (end of childhood in some cases). 

Clinical presentation:

* Neurologic: 

- delayed acquisition of walking

- ataxia that worsens during infections and is progressing slowly

- dysarthria

- spasticity of late onset

- rarely: convulsions

* puberty: lack of pubertal development, short stature

* teething: sometimes presence of neonatal teeth. Delayed dental eruption that starts with the molars, absence or deformity of some permanent teeth

 Anesthetic implications:

short stature, fragile teeth

References : 

Updated December 2019