Rare Gastroenterology News
Advertisement
Disease Profile
Carey-Fineman-Ziter 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.
<1 >
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)
Carey Fineman Ziter syndrome; CFZ syndrome; Moebius sequence, Robin complex, and hypotonia;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Carey-Fineman-Ziter
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 |
Aplasia/Hypoplasia of the tongue | 0010295 | |
Short fingers or toes
|
0001156 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Facial palsy |
Bell's palsy
|
0010628 |
Impaired ocular abduction | 0000634 | |
Long philtrum | 0000343 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Pierre-Robin sequence | 0000201 | |
Drooping upper eyelid
|
0000508 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
30%-79% of people have these symptoms | ||
Cleft roof of mouth
|
0000175 | |
Glossoptosis |
Retraction of the tongue
|
0000162 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Mental deficiency
Mental-retardation
Mental retardation
Mental retardation, nonspecific
[ more ] |
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
5%-29% of people have these symptoms | ||
Aplasia of the pectoralis major muscle | 0009751 | |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Glandular hypospadias | 0000807 | |
Global |
0001263 | |
Hydronephrosis | 0000126 | |
Hypertensive crisis | 0100735 | |
Laryngeal stenosis | 0001602 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
Ventriculomegaly | 0002119 | |
1%-4% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
0000501 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormal cardiac septum morphology | 0001671 | |
0000007 | ||
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
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 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hypoplasia of the brainstem |