National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Catel Manzke syndrome



Other Names:
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Pierre Robin syndrome with hyperphalangy and clinodactyly; Palatodigital syndrome Catel-Manzke type; Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Pierre Robin syndrome with hyperphalangy and clinodactyly; Palatodigital syndrome Catel-Manzke type; Index finger anomaly with Pierre Robin syndrome See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1388

Definition
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

Epidemiology
Catel-Manzke syndrome has been described in more than 33 patients.

Clinical description
The key feature of Catel-Manzke syndrome is a bilateral hyperphalangy of the index finger in which there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence which combines micrognathia, glossoptosis and cleft palate. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication (see these terms). Less frequent findings include iris coloboma, mild facial dysmorphism (hypertelorism, short palpebral fissures, full cheeks, low-set or posteriorly rotated ears), pectus excavatum, pectus carinatum, scoliosis, bilateral brachydactyly, bilateral fifth finger clinodactyly, knee dislocation, talipes, short halluces, failure to thrive and an intellectual disability, ranging from mild to severe.

Etiology
Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in Catel-Manzke syndrome.

Diagnostic methods
The disease is diagnosed at birth due to the manifestions linked with Pierre Robin sequence and the abnormal index finger. Radiological findings confirm digital abnormalities including a supernumerary deltoid or trapezoid bone located ulnarwards between the slightly shortened second metacarpal and the significantly shortened corresponding proximal phalanx. On its ulnar side, or more unusually on its radial side, the accessory bone has a pin-shaped bone, possibly an epiphysis causing a broadening of the index finger at the level of the metacarpophalangeal joint. The supernumerary bone fuses with the first phalanx in later life which may cause subluxation at the metacarpo-phalangeal joint.

Differential diagnosis
Differential diagnoses related to the bone abnormalities may include Desbuquois syndrome, Temtamy preaxial brachydactyly syndrome and brachydactyly type C (see these terms).

Genetic counseling
Transmission is autosomal recessive. Genetic counseling is recommended.

Management and treatment
Treatment for airway distress and/or feeding complications involves prone positioning for breathing and/or feeding and is effective for most neonates. The cleft palate is usually corrected by surgical intervention before the age of nine months. Long-term orthodontic care is required. However, follow-up by a multidisciplinary team (pediatrician, craniofacial surgeon, cardiologist, ear, nose and throat specialist and speech therapist) is recommended. The infant continues to need feeding and speech assessments and breathing capacity needs to be monitored.

Prognosis
Prognosis is good with appropriate early treatment and successful management of clinical manifestations during the first year of life.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2015

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.

Showing of 24 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Glossoptosis
Retraction of the tongue
0000162
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
30%-79% of people have these symptoms
Chronic otitis media
Chronic infections of the middle ear
0000389
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
0000293
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
0002553
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Low-set, posteriorly rotated ears 0000368
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ]
0004322
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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
Camptodactyly of finger
Permanent flexion of the finger
0100490
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Metatarsus valgus 0010508
Oral synechia 0010285
Pectus excavatum
Funnel chest
0000767
Radial deviation of the 2nd finger 0009467
Ventriculomegaly 0002119
Showing of 24 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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 National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Catel Manzke syndrome. Click on the link to view a sample search on this topic.

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