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Disease Profile
Kaplan Plauchu Fitch 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.
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
Age of onset
Neonatal
ICD-10
Q87.0
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)
Acrocraniofacial dysostosis
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 949
Definition
A very rare acrofacialdyosotosis characterized by short stature , acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate , micrognathia , abnormal external ears, preauricular pits, mixed hearing loss , bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
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 | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
| Abnormal form of the vertebral bodies | 0003312 | |
| Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
|
Cleft roof of mouth
|
0000175 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Flared iliac wings | 0002869 | |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Partial |
Notched outermost bone of big toe
Partial duplication of the outermost bone of big toe
[ more ] |
0010097 |
| Preauricular pit |
Pit in front of the ear
|
0004467 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
|
Drooping upper eyelid
|
0000508 | |
| Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Triphalangeal thumb |
Finger-like thumb
|
0001199 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ] |
0000262 |
| 30%-79% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormality of the incus | 0011453 | |
| Abnormality of the malleus | 0011454 | |
| Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
| Coxa valga | 0002673 | |
| 0001363 | ||
| Genu valgum |
Knock knees
|
0002857 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Sensorineural hearing impairment | 0000407 | |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
| Spina bifida occulta | 0003298 | |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal auditory evoked potentials | 0006958 | |
| Abnormality of the outer ear |
Abnormality of the external ear
Ear anomalies
External ear malformations
Outer ear abnormality
[ more ] |
0000356 |
| Abnormality of the vertebral column |
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] |
0000925 |
| 0000007 | ||
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
| Oxycephaly | 0000263 | |
| Short first metatarsal |
Short 1st long bone of foot
|
0010105 |
| Webbed neck |
Neck webbing
|
0000465 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
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 Kaplan Plauchu Fitch syndrome. Click on the link to view a sample search on this topic.