[MIM 619 297]

Acronym for : horseshoe Kidney, Nievergelt-Savarirayan mesomelic dysplasia, Seizures, Hypertrichosis, impaired Intellectual development, Pulmonary involvement.

Autosomal dominant transmission of an AFFP3 gene mutation (2q11.2).

Association of:

-        bilateral peroneal agenesis and dysplastic tibiae; short forearms with radius subluxation

-        short stature (< P3 for age)

-        mental retardation: cortical and subcortical atrophy with ventricular dilatation

-        horseshoe kidney or renal hypoplasia

-        epilepsy

-        wide mouth, dental and gingival abnormalities

-        hypertrichosis

Anesthetic implications: 

check renal function, difficult peripheral venous access , short stature, mental retardation

References : 

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Updated: July 2021