Short Stature, Optic Nerve Atrophy, And Pelger-huet Anomaly; Soph

Description

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

Clinical Features

Top most frequent phenotypes and symptoms related to Short Stature, Optic Nerve Atrophy, And Pelger-huet Anomaly; Soph

  • Short stature
  • Generalized hypotonia
  • Pica
  • Hypertelorism
  • Growth delay
  • Strabismus
  • Muscular hypotonia
  • Epicanthus
  • Brachydactyly
  • Myopia
And another 29 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, Optic Nerve Atrophy, And Pelger-huet Anomaly; Soph Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

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ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
NBAS.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NBAS
Specificity
100 %
Genes
100 %
Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NBAS, LARS
Specificity
50 %
Genes
100 %
NBAS-Related Disorders via the NBAS Gene.

By PreventionGenetics PreventionGenetics in United States.

NBAS
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

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Specificity
1 %
Genes
100 %
Short stature, optic nerve atrophy, and Pelger-Huet anomaly.

By Centogene AG - the Rare Disease Company in Germany.

NBAS
Specificity
100 %
Genes
100 %
Infantile liver failure syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

NBAS
Specificity
100 %
Genes
100 %
NBAS.

By Fulgent Genetics Fulgent Genetics in United States.

NBAS
Specificity
100 %
Genes
100 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

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Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

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HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

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Specificity
1 %
Genes
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Alternate names

Short Stature, Optic Nerve Atrophy, And Pelger-huet Anomaly; Soph Is also known as ;soph syndrome.


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