Neuroectodermal-endocrine Syndrome

Description

Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuroectodermal-endocrine Syndrome

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly
  • Gait disturbance
  • Abnormality of the skeletal system
  • Intellectual disability, mild
  • Kyphosis
  • Delayed skeletal maturation

And another 83 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.)
— The onset for some of the known clinical features related to this disease may vary, including childhood onset, childhood onset, childhood onset, and childhood onset .

Alternative names

Neuroectodermal-endocrine Syndrome Is also known as pseudoachondroplastic dysplasia, oerter-friedman-anderson syndrome, spondyloepiphyseal dysplasia, pseudoachondroplastic.

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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Neuroectodermal-endocrine Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel.

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

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
COMP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

COMP
Specificity
100 %
Genes
100 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TRIP11, EVC2, COL11A1, COL11A2, COMP, EVC, FGFR2
Specificity
15 %
Genes
100 %
COMP. Sequencing of the exons 8-19.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

COMP
Specificity
100 %
Genes
100 %
COMP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

COMP
Specificity
100 %
Genes
100 %
Pseudoachondroplasia (sequence analysis of COMP gene).

By CGC Genetics (Portugal).

COMP
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE; EPKHE CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 CATARACT 9, MULTIPLE TYPES; CTRCT9

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