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Disease Profile

Ruvalcaba 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.

Unknown

Age of onset

Infancy

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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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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 3121

Definition
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

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
Brachydactyly
Short fingers or toes
0001156
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

0000444
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Kyphosis
Hunched back
Round back

[ more ]

0002808
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow mouth
Small mouth
0000160
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Ptosis
Drooping upper eyelid
0000508
Short metacarpal
Shortened long bone of hand
0010049
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Small hand
Disproportionately small hands
0200055
Synostosis of carpal bones
Fusion of wrist bones
0005048
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
30%-79% of people have these symptoms
Abnormality of the elbow
Abnormality of the elbows
0009811
Abnormality of vertebral epiphysis morphology
Abnormal shape of the end part of the vertebra bone
0100734
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
High forehead
0000348
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Pectus carinatum
Pigeon chest
0000768
Scoliosis
0002650
5%-29% of people have these symptoms
Abnormal electroretinogram
0000512
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
Abnormality of visual evoked potentials
0000649
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Generalized hirsutism
Excessive hairiness over body
0002230
Hematuria
Blood in urine
0000790
Hypopigmented skin patches
Patchy loss of skin color
0001053
Inguinal hernia
0000023
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormality of the breast
0000769
Autosomal dominant inheritance
0000006
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension

[ more ]

0001377
Narrow nose
Decreased nasal breadth
Decreased nasal width
Thin nose

[ more ]

0000460
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Short foot
Short feet
Small feet

[ more ]

0001773
Short metatarsal
Short long bone of foot
0010743
Short palm
0004279
Short phalanx of finger
Short finger bones
0009803
Short stature
Decreased body height
Small stature

[ more ]

0004322
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430

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 Ruvalcaba syndrome. Click on the link to view a sample search on this topic.