Haddad Syndrome

Description

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

Clinical Features

Top most frequent phenotypes and symptoms related to Haddad Syndrome

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Polyhydramnios
  • Gastroesophageal reflux
  • Small for gestational age
  • Oligohydramnios

And another 8 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

Haddad Syndrome Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome, ondine-hirschsprung syndrome, ondine-hirschsprung disease.

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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Haddad Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
34 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, SDHAF2, TMEM127, MAX, RET
Specificity
12 %
Genes
34 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, TP53, VHL, CDC73, SDHAF2, TMEM127, MAX, MEN1, PRKAR1A, PTEN, RET
Specificity
8 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
67 %
MEN2 (RET) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

RET
Specificity
100 %
Genes
34 %
Pheochromocytoma Evaluation.

By Athena Diagnostics Inc (United States).

SDHB, VHL, RET
Specificity
34 %
Genes
34 %
Multiple endocrine neoplasia, type 2.

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

RET
Specificity
100 %
Genes
34 %
Multiple Endocrine Neoplasia Type 2.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

RET
Specificity
100 %
Genes
34 %

We have 328 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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