What are the other Names for this Condition? (Also known as/Synonyms)

• Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome
• Palato Digital Syndrome, Catel-Manzke Type
• Pierre Robin Syndrome with Hyperphalangy and Clinodactyly

What is Catel-Manzke Syndrome? (Definition/Background Information)

• 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 comprising micrognathia, cleft palate and glossoptosis

(Source: Catel-Manzke Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Catel-Manzke Syndrome? (Age and Sex Distribution)

• Catel-Manzke Syndrome is a rare congenital disorder that has been observed in less than 35 individuals (so far)
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Catel-Manzke Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Catel-Manzke Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Catel-Manzke Syndrome? (Etiology)

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

(Source: Catel-Manzke syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Signs and Symptoms of Catel-Manzke Syndrome?

The signs and symptoms of Catel-Manzke Syndrome vary, but may include:

• Small mouth
• Short, incompletely developed tongue (hypoglossia)
• Absent, partially missing, or shortened fingers and/or toes
• Jaw abnormalities such as micrognathia, retrognathia (receding jaw), or partially missing mandible (lower jaw)
• High-arched, narrow, or cleft palate
• Absent or unusually formed arms and/or legs
• Missing teeth
• Absence of major salivary glands

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of epiphysis morphology
• Clinodactyly of the 5th finger
• Failure to thrive
• Glossoptosis
• Malar Flattening
• Micrognathia

Frequently present symptoms in 30-79% of the cases:

• Chronic otitis media
• Full cheeks
• Highly arched eyebrow
• Joint stiffness

(Source: Catel-Manzke Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Catel-Manzke Syndrome Diagnosed?

• Catel-Manzke Syndrome is diagnosed at birth due to the manifestations linked with Pierre Robin sequence and the abnormal index finger
• Radiological findings confirm digital abnormalities including a supernumerary deltoid or trapezoid bone located ulnar-wards 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 diagnoses related to the bone abnormalities may include Desbuquois syndrome, Temtamy preaxial brachydactyly syndrome and brachydactyly type C 

(Source: Catel-Manzke Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Catel-Manzke Syndrome?

The complications of Catel-Manzke syndrome may include:

• Joint immobility
• Facial deformities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Catel-Manzke Syndrome Treated?

• 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

(Source: Catel-Manzke Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Catel-Manzke Syndrome be Prevented?

Currently, Catel-Manzke syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Catel-Manzke Syndrome? (Outcomes/Resolutions) 

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

(Source: Catel-Manzke Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Catel-Manzke Syndrome:

Catel-Manzke Syndrome may also be known by the synonym: Index Finger Anomaly with Pierre Robin Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/