Lamb-shaffer Syndrome; Lamshf

Description

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Lamb-shaffer Syndrome; Lamshf

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Strabismus
  • Abnormal facial shape
  • Ptosis
  • Low-set ears
  • Delayed speech and language development

And another 48 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.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lamb-shaffer Syndrome; Lamshf Recommended genes panels

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

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RPL10, BDNF, SCN1A, SCN2A, BRAF, SLC6A4, SLC9A6, SMC1A, KDM5C, SNRPN, SOX5, SPAST, ST7, STK3, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
SOX5.

By Fulgent Genetics Fulgent Genetics (United States).

SOX5
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics (Spain).

RPL10, BDNF, SCN1A, SCN2A, BRAF, SLC6A4, SLC9A6, SMC1A, KDM5C, SNRPN, SOX5, SPAST, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, CNTNAP2, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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