SHRF

Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies

Clinical Characteristics
Ocular Features: 

Two of 3 patients from 2 unrelated German families had myopia and the fundus changes of retinitis pigmentosa.  One was a 28-year-old male and the other was a 44-year-old female from the other family.  In addition, the female was described as having a corneal dystrophy and glaucoma and the male was noted to have nystagmus.

Systemic Features: 

Patients have a marked shortness of stature which may be evident in the first years of life.   Brachydactyly with broad thumbs is present.  Mild intellectual disability is usually a feature as are a high forehead, deep-set eyes, short and upslanting palpebral fissures, and a short nose with anteverted nares. A wide nasal base with thin upper lips, and low-set posteriorly rotated ears may be noted.  Speech is usually delayed and a progressive sensorineural hearing loss may develop in the first few years of life.  Patients appear to age prematurely with sparse hair and arterial hypertension.

MRI imaging may reveal cerebellar atrophy and dysmyelination.  One individual had calcifications in the basal ganglia and thalamus.

Genetics

Homozygous or compound heterozygous mutations in the EXOSC2 gene (9p34) are responsible for this condition.Homozygous or compound heterozygous mutations in the EXOSC2 gene (9p34) are responsible for this condition.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmuller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 Jun;53(6):419-25.

PubMed ID: 
26843489
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