Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies; Shrf

Description

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies; Shrf

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Delayed speech and language development
  • Brachydactyly
  • Hypertension
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies; Shrf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
EXOSC2.

By Fulgent Genetics Fulgent Genetics in United States.

EXOSC2
Specificity
100 %
Genes
100 %

Alternate names

Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies; Shrf Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome.



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