Lateral Meningocele Syndrome

Description

Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Lateral Meningocele Syndrome

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia

And another 79 symptoms. If you need more information about this disease we can help you.

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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

Lateral Meningocele Syndrome Is also known as lehman syndrome, lms.

Researches and researchers

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

Lateral Meningocele Syndrome Experts map



Current Researchs and researchers

  • SIOUX FALLS — Pr Kameswaran SURENDRAN

    Investigator of research project

    • Institution/s:
      — Sanford Children's Health Research Center, Sanford Research
    • Research area/topic::

      The molecular regulators of kidney collecting duct differentiation



Mendelian

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Lateral Meningocele Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete CASASIL Evaluation.

By Athena Diagnostics Inc (United States).

NOTCH3
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.

By Athena Diagnostics Inc (United States).

SCN1A, SLC2A1, CACNA1A, PRRT2, NOTCH3, ATP1A2, POLG
Specificity
15 %
Genes
100 %
NOTCH3 (CADASIL) Sequencing Test.

By Athena Diagnostics Inc (United States).

NOTCH3
Specificity
100 %
Genes
100 %
Cadasil (NOTCH3).

By Center for Human Genetics, Inc (United States).

NOTCH3
Specificity
100 %
Genes
100 %
Migraine and Strokes Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SLC2A1, CACNA1A, COL4A1, NOTCH3, ATP1A2, POLG, HTRA1
Specificity
13 %
Genes
100 %
CADASIL.

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

NOTCH3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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