[MIM 102 370]

(Moore-Federman syndrome, dwarfism-joint stiffness-eye abnormalities)

Prevalence: 1.106. Autosomal dominant transmission of a heterozygous mutation of the FBN1 gene (15q21.1) coding for the domain 5 of the TGF-beta binding protein.

Form of dwarfism. The stature is generally normal at birth, but postnatal stature gradually drops below normal percentiles. Adults have an average height of 130 cm. The hands, feet and limbs are short and the occipito-frontal circumference is normal. There is no intellectual deficit.

Clinical features:

-        slight facial dysmorphism: round face, narrow palpebral fissures, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, small mouth with thick lips.

-        well-developed musculature,

-        hoarse voice,

-        widespread joint limitations

-        hearing problems (hypoacusis, deafness),

-        tracheal abnormalities (tracheomalacia) and frequent respiratory infections

-        vertebral abnormalities: ovoid vertebral bodies

Long-term follow-up shows that facial dysmorphism fades in adulthood and that carpal tunnel syndrome is common in older patients.

Moore-Federman syndrome, which is characterized by ocular abnormalities (hypermetropia, glaucoma), short stature (with short and disproportionate legs), joint stiffness and thickening of the forearm skin, might represent a variable clinical expression of acromicric dysplasia.

X-rays reveals a delay in the carpal bone age, conical epiphyses, short metacarpals and phalanxes with an internal notch on the second metacarpal, an external notch on the fifth metacarpal and an internal notch on the femoral heads. The notches at the level of the hands disappear in adulthood.

Anesthetic implications: 

short stature; tracheomalacia; endotracheal tube size ? increased risk of endobronchial intubation; difficult peripheral venous access.

References : 

-        Le Goff C, Mahaut C, Wang L. W, Allali S, et al
Mutations in the TGF-beta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 
Am J Hum Genet 2011; 89: 7-14.

Updated: March 2020