Catel–Manzke syndrome

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Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; occasionally with additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). It is also linked to hyper mobility syndrome.

Presentation

Infants with Catel–Manzke syndrome have an extra (supernumerary), irregularly shaped bone known as a Hyperphalangy located between the first bone of the index finger (proximal phalanx) and the corresponding bone within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly). In some rare cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; consistent middle ear infections (otitis media); and other complications.

In addition, some infants with the syndrome may have structural abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel–Manzke syndrome usually appears to occur randomly, for unknown sporadic reasons.

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission is autosomal recessive. Genetic counseling is recommended.

Diagnosis

• 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.

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.

Prevalence

Currently there are only around 26 people in the world that are known to have this rare condition. Inheritance is thought to be X-linked recessive.

External links

Classification	ICD-10: Q87.8 OMIM: 302380 MeSH: C535347 DiseasesDB: 33832
External resources	Orphanet: 1388