Rare Endocrinology News
Disease Profile
Zechi Ceide 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
Infancy
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.
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)
Occipital atretic cephalocele, unusual facies and large feet
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 217017
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal posterior cranial fossa morphology | 0000932 | |
Abnormality of earlobe |
Abnormal earlobe
Abnormality of ear lobe
[ more ] |
0000363 |
Abnormality of the helix | 0011039 | |
Atretic occipital cephalocele | 0004470 | |
Cerebellar vermis hypoplasia | 0001320 | |
0410030 | ||
Cleft roof of mouth
|
0000175 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Global |
0001263 | |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ] |
0001833 |
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 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Short philtrum | 0000322 | |
Small nail |
Small nails
|
0001792 |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
5%-29% of people have these symptoms | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Postauricular skin tag |
Skin tag behind the ear
|
0004451 |
Thick hair |
Increased hair density
|
0100874 |
Widened subarachnoid space | 0012704 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
0000007 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cephalocele | 0011815 | |
Cleft upper lip |
Harelip
|
0000204 |
Malar flattening |
Zygomatic flattening
|
0000272 |
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 Zechi Ceide syndrome. Click on the link to view a sample search on this topic.