Rare Medical News

Disease Profile

Mesomelic dwarfism cleft palate camptodactyly

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

Q78.8

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)

Reardon-Hall-Slaney syndrome; Mesomelic limb shortening and bowing

Categories

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

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2631

Definition
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.

Visit the Orphanet disease page for more resources.

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
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cleft palate
Cleft roof of mouth
0000175
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Mesomelia
Disproportionately short middle portion of limb
0003027
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Skin dimple
0010781
30%-79% of people have these symptoms
Abnormal lung lobation
0002101
Abnormal metacarpal morphology
Abnormal shape of long bones of hand
0005916
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Low-set, posteriorly rotated ears
0000368
Overfolded helix
Overfolded ears
0000396
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Vertebral segmentation defect
0003422
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bowing of the arm
Bending of the arm
0006488
Bowing of the legs
Bowed legs
Bowed lower limbs

[ more ]

0002979
Mesomelic arm shortening
0005011
Mesomelic leg shortening
0004987
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347

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 Mesomelic dwarfism cleft palate camptodactyly. Click on the link to view a sample search on this topic.