[MIM 136 140]

(Leisti-Hollister-Rimoin syndrome)

Very rare: a hundred reported cases. Sporadic, but a few familial cases transmitted an autosomal dominant mode have been reported. This syndrome is associated with heterozygous mutations in the exon 34 of SRCAP gene This gene codes for an ATPase involved in chromatin remodeling and which is the co-factor of CREBBP, the causal gene of the Rubinstein-Taybi syndrome (see this topic). These mutations cause abnormal embryonic development characterized

by:

-        facial dysmorphism: a triangular face, a bulbous nose  and prominent nose with a broad bridge, wide columella, sunken eyes with long eyelashes, a large mouth with a thin upper lip, low-set ears and occasionally wide big thumbs and toes

-        short stature with retarded bone age: the size is usually below the P3 and is below the average by 2 to 4 standard deviations. There is a delay associated with bone age.

-        a speech retardation marked by a deficit of the expressive speech and often associated with a nasal voice.

Other variable manifestations include: celiac disease, a pseudoarthrosis of the clavicle, intellectual disabilities, dental anomalies (malocclusion, microdontia, supernumerary upper teeth), a short neck, brachydactyly and clinodactyly of the 5th finger. Cardiac and genitourinary anomalies are sometimes associated.
Treatment is only symptomatic: education and development adapted programs and regular orthodontic care . Growth hormone therapy may be beneficial for some patients.
Despite their short stature and school difficulties, patients generally remain in good health and have a good quality of life.

Anesthetic implications:

short stature, fragile teeth

References : 

-        Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, et al.
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 ofSRCAP.
Orphanet Journal of Rare Diseases 2013; 8:63. DOI: 10.1186/1750-1172-8-63

Updated: July 2016