Hennekam Syndrome

Description

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to Hennekam Syndrome

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears

And another 109 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

Hennekam Syndrome Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome, lymphatic dysplasia, generalized, hennekam lymphangiectasia-lymphedema syndrome.

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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Hennekam Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
3 %
Genes
67 %
FAT4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

FAT4
Specificity
100 %
Genes
34 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
34 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
34 %
FAT4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

FAT4
Specificity
100 %
Genes
34 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
67 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
34 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
34 %

We have 31 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3 EPISODIC ATAXIA, TYPE 1; EA1 D-BIFUNCTIONAL PROTEIN DEFICIENCY BARDET-BIEDL SYNDROME 14; BBS14

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