Disease Profile

Hydrocephalus-cleft palate-joint contractures 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.

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)

Aase-Smith syndrome I; Joint contractures with other abnormalities

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

Hydrocephaluscleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot. The cause of hydrocephalus-cleft palate-joint contractures syndrome is not known, but it is likely genetic due to reports of affected family members and likely autosomal dominant inheritance. Treatment is specific to the symptoms present in each individual and might include surgical correction of birth defects such as cleft palate and clubfoot. 

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
80%-99% of people have these symptoms
Abnormality of the hip bone
Abnormality of the hips
0003272
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cleft palate
Cleft roof of mouth
0000175
Dandy-Walker malformation
0001305
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Multiple joint contractures
0002828
Scoliosis
0002650
Trismus
Lockjaw
0000211
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the radius
0006501
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
5%-29% of people have these symptoms
Neoplasm
0002664
Slender finger
Narrow fingers
Slender fingers
thin fingers

[ more ]

0001238
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Congenital neuroblastoma
0006742
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Ptosis
Drooping upper eyelid
0000508
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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hydrocephalus-cleft palate-joint contractures syndrome. Click on the link to view a sample search on this topic.

References

  1. Victor A. McKusick. AASE-SMITH SYNDROME I. OMIM. 2/20/2014; https://www.omim.org/entry/147800.
  2. Aase-Smith syndrome. Orphanet. July 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916. Accessed 6/22/2016.