Rare Immunology News

Disease Profile

Hydrolethalus syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HLS

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Abnormal lung lobation
0002101
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Anencephaly
0002323
Bifid uterus
0000136
Cleft in skull base
0009752
Laryngeal hypoplasia
0008749
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Polyhydramnios
High levels of amniotic fluid
0001561
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Preaxial hand polydactyly
Extra thumb
0001177
Severe hydrocephalus
0006882
Stillbirth
Stillborn
0003826
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Tracheal stenosis
Narrowing of windpipe
0002777
Percent of people who have these symptoms is not available through HPO
Abnormal cortical gyration
0002536
Abnormal vagina morphology
0000142
Absent septum pellucidum
0001331
Accessory spleen
0001747
Adrenal gland dysgenesis
0008216
Agenesis of corpus callosum
0001274
Agenesis of the diaphragm
Absent diaphragm
0008986
Arrhinencephaly
0002139
Autosomal recessive inheritance
0000007
Bifid nose
Indentation or clefting of the nose
0011803
Broad neck
Increased width of neck
Wide neck

[ more ]

0000475
Cleft palate
Cleft roof of mouth
0000175
Complete atrioventricular canal defect
0001674
Dandy-Walker malformation
0001305
Duplication of phalanx of hallux
Duplication of big toe bone
Duplication of great toes

[ more ]

0010066
Gray matter heterotopia
0002282
Hydronephrosis
0000126
Hypospadias
0000047
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Median cleft lip
Central cleft upper lip
0000161
Omphalocele
0001539
Proximal tibial hypoplasia
0006379
Upper limb undergrowth
Short arms
Shortening of the arms

[ more ]

0009824
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hydrolethalus syndrome. Click on the link to view a sample search on this topic.