[MIM 149 730]

(LADD syndrome, LARD syndrome, Levy-Hollister syndrome)

Incidence: < 1/106. Autosomal dominant transmission of a mutation of the FGFR3 (4p16.3), FGFR2 (10q26.13) or FGF10 (5p12) gene.

Association of:

• hypoplasia, atresia or aplasia of the lacrimal tract: epiphora or chronic conjunctivitis
• hypoplasia or aplasia of the parotid and submandibular glands: xerostomia, dental decay
• hypodontia and microdontia: late tooth eruption, moderate enamel hypoplasia, small or absent lateral incisors
• abnormalities of the ear: cup pavilions, neuro-sensory or mixed deafness
• abnormalities of the fingers: aplasia, hypoplasia or duplication of the thumb; triphalangated thumb; syndactyly; clinodactyly

LARD (lacrimoauriculoradiodental) syndrome has been proposed as another acronym since unilateral radial aplasia and radioulnar synostosis have also been described.

Anesthetic implications:

fragile teeth

References :

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Updated: October 2021