Masa Syndrome

Description

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

Clinical Features

Top most frequent phenotypes and symptoms related to Masa Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Strabismus
  • Spasticity
  • Cognitive impairment

And another 33 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Masa Syndrome Is also known as spastic paraplegia 1, x-linked, thumb, congenital clasped, with mental retardation, gareis-mason syndrome, intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, clasped thumb and mental retardation, spg1, mental retardation, aphasia, shufflin.

Researches and researchers

Doctors, researchs, and experts related to Masa Syndrome extracted from public data.

Masa Syndrome Experts map



Current Researchs and researchers

  • GENOVA — Dr Pietro BALDELLI

    Investigator of research project

    • Institution/s:
      — Sezione di Fisiologia Umana, IRCCS AOU San Martino - IST - DIMI
    • Research area/topic::

      L1-CAM-disease (CRASH syndrome): expression and synaptic role of expression and synaptic role of L1-CAM and its mutations; pharmacology of its signalling



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Masa Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HSP, X-Linked Evaluation.

By Athena Diagnostics Inc (United States).

L1CAM, PLP1
Specificity
50 %
Genes
100 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
X-linked hydrocephalus.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

L1CAM
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
L1CAM Related Disorders - L1CAM Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

L1CAM
Specificity
100 %
Genes
100 %

We have 98 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERRAULT SYNDROME 4; PRLTS4 SULFOCYSTEINURIA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more