[MIM 618 493]

Acronym for Hypotonia, hypoventilation, Impaired intellectual development, Dysautonomia, Epilepsy, eye Abnormalities.

Rare. Autosomal recessive transmission of a mutation of the P4HTM gene (3p21.31) coding for an enzyme in the prolyl4-hydroxylases family.

Clinical features:

-        hypotonia

-        hypoventilation: bradypnea, obstructive sleep apnea, frequent respiratory infections

-        delayed intellectual development: absent or rudimentary speech, abnormal movements (frequent death due to pneumonia)

-        dysautonomy: hypo- or hyperthermia

-        epilepsy

-        eye abnormalities: rotary nystagmus, strabismus, myopia, optic atrophy, pale ocular fundus, cortical blindness.

-        sometimes: obesity, retrognathia, flat feet

Phenotype similar to ROHHAD syndrome (see this term).

Anesthetic implications: 

epilepsy, mental retardation, central obstructive apneas, obesity; monitoring of the temperature

References : 

-         Lim AM, Tan PL, Visruthan NK, Fong N, Viegelmann GC, Tan IH et al.
HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant.
Pediatr Pulmonol 2022, 57 : 1826-9

Updated: November 2023