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Disease Profile
Raine syndrome
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.
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Age of onset
Neonatal
ICD-10
Q78.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Lethal osteosclerotic bone dysplasia; Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1832
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 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Delayed cranial suture closure | 0000270 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ] |
0008501 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Short neck |
Decreased length of neck
|
0000470 |
30%-79% of people have these symptoms | ||
Gingival fibromatosis | 0000169 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Mandibular aplasia |
Failure of development of lower jaw
Missing lower jaw
[ more ] |
0009939 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Respiratory failure | 0002878 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
5%-29% of people have these symptoms | ||
Arthrogryposis multiplex congenita | 0002804 | |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Short fingers or toes
|
0001156 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Long hallux |
Long big toe
|
0001847 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Microdontia |
Decreased width of tooth
|
0000691 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
Pectus excavatum |
Funnel chest
|
0000767 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Brachyturricephaly |
High, prominent forehead
|
0000244 |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
Cleft roof of mouth
|
0000175 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypophosphatemia |
Low blood phosphate level
|
0002148 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Learn moreThese 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
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