Rare Rheumatology News

Disease Profile

Carey-Fineman-Ziter 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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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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 syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre-Robin sequence), among other symptoms.[1][2][3] CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development.[3] Treatment depends on the symptoms. In one case report a patient with scoliosis was treated with a rod placement. [1]

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.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.

    Where to Start

    • The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.

      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 Carey-Fineman-Ziter syndrome. Click on the link to view a sample search on this topic.

        References

        1. Carey-Fineman-Ziter syndrome. Orphanet. 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1358.
        2. Carey-Fineman-Ziter syndrome. Online Mendelian Inheritance in Man (OMIM). 2016; https://omim.org/entry/254940.
        3. Di Gioia SA, Connors S, Matsunami N, et al.. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications 8, Article number. July 6, 2017; 16077 (2017):https://www.nature.com/articles/ncomms16077.

        Rare Rheumatology News

        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
        Brachydactyly
        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
        Micrognathia
        Little lower jaw
        Small jaw
        Small lower jaw

        [ more ]

        0000347
        Muscular hypotonia
        Low or weak muscle tone
        0001252
        Pierre-Robin sequence
        0000201
        Ptosis
        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 palate
        Cleft roof of mouth
        0000175
        Glossoptosis
        Retraction of the tongue
        0000162
        High palate
        Elevated palate
        Increased palatal height

        [ more ]

        0000218
        Intellectual disability
        Mental deficiency
        Mental-retardation
        Mental retardation
        Mental retardation, nonspecific

        [ more ]

        0001249
        Microcephaly
        Abnormally small skull
        Decreased circumference of cranium
        Decreased size of skull
        Reduced head circumference
        Small head circumference

        [ more ]

        0000252
        Scoliosis
        0002650
        Short stature
        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 developmental delay
        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
        Cataract
        Clouding of the lens of the eye
        Cloudy lens

        [ more ]

        0000518
        Glaucoma
        0000501
        Percent of people who have these symptoms is not available through HPO
        Abnormal cardiac septum morphology
        0001671
        Autosomal recessive inheritance
        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
        Dysphagia
        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 contracture
        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