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At a glance

It is a very rare medical condition that is part of a spectrum of diseases called Oral-Facial-Digital Syndrome (OFDS). There are 10 disorders that have been identified in this condition and the Mohr Syndrome is Type II. It is characterized by a familial association of deafness with facial hypoplasia and minor midline cleft (tongue, lip, palate). Clinically, the symptoms include frequent episodic neuromuscular disturbances, coarse hair, grainy skin lesions, polycystic kidneys (after the age of 10 years), malformation of the hands and feet (eg, unilateral polysyndactyly), shortened limbs, and differing degrees of mental retardation. There are reports of an association with congenital cardiac defects (eg, tetralogy of Fallot).

Synonyms

Oral-Facial-Digital Syndrome Type II; ORF Syndrome II; Orofaciodigital Syndrome II; Mohr-Claussen Syndrome.

History

It was first described in 1941 by the Norwegian geneticist Otto L. Mohr (1886-1967), who was the uncle of Professor Jan Mohr (1921-2007) of Copenhagen, who was a Norwegian Danish physician and genecist known for his discovery of the first cases of autosomal genetic linkage in human.

Incidence

The exact incidence remains unknown. There are fewer than 50 cases reported in the medical literature. It affects male and female equally.

Genetic inheritance

It is an autosomal recessive inheritance pattern.

Clinical aspects

Conductive hearing loss (anomaly of unci); mild hypoplasia of zygomatic arch, maxilla and body of mandible; flat nasal bridge; partial cleft of lip or palate, hyperplastic frenulum; midline cleft of tongue and/or nodules on the tongue; short stature, partial reduplication of big toe, polydactyly; flared epiphyses.

Mohr Syndrome: Neonate with partial cleft of the palate and the tongue and flat nasal bridge was diagnosed with Mohr Syndrome (Orofaciodigital Syndrome type II).

Precautions before anesthesia

A completed evaluation of the airway must be performed. Also, the potential association with congenital heart defects will require a consultation with a cardiologist, echocardiography, and ECG.

Anesthetic considerations

The important consideration with this medical condition includes presence of maxillary and mandibular hypoplasia, associated to a cleft palate that may lead to difficult direct laryngoscopy and tracheal intubation. There are no other specific considerations with this condition, except for those associated with an associated medical condition. For instance, there is one report of a parturient woman affected with Mohr’s Syndrome and tetralogy of Fallot with left ventricular dysfunction. Of course, the anesthesia management includes the general established approach for any patient with this heart defect condition.

References

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Gerçek  A, Dagcinar  A, Ozek  MM: Anesthetic management of a newborn with Mohr (oro-facial-digital type II) syndrome. Paediatr Anaesth 17(6):603–604, 2007.  [PubMed: 17498035]

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