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Catel-Manzke syndrome

Orpha number ORPHA1388
Synonym(s) Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly - Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence - hyperphalangy - clinodactyly
Pierre Robin syndrome - hyperphalangy - clinodactyly
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1844887
MeSH
  • C535347
MedDRA -

Summary

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.

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

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 ventral septal defect and atrial septal defect. 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 is unknown.

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

Most cases are sporadic. The occurrence of several affected individuals within families suggests an underlying genetic cause but the mode of inheritance is still unclear.

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

Expert reviewer(s)

  • Dr Almuth CALIEBE

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