Mohr Syndrome

Alternative Names

  • Orofaciodigital Syndrome II
  • OFD2
  • OFDS II
  • Oral-Facial-Digital Syndrome, Type II
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

252100

Mode of Inheritance

Autosomal recessive

Description

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. [From Orphanet]

Epidemiology in the Arab World

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Other Reports

Arab

Rhouma and Horneff, 2014, described a female child born to consanguineous parents from Abu Dhabi. Features included a broad protruding nasal root, inverse epicanthus folds, and hypotrophic alae of the nose; a lobulated tongue and posterior cleft palate with short frenulum; and digital anomalies such as brachymetaphalangia, brachymetatarsalia, and preaxial polydactyly. 

Lebanon

Ghossaini et al (2002) described a male Lebanese patient with several congenital anomalies, including polysyndactyly, hypertelorism, partial median cleft of the upper lip, and 2 solitary tongue masses. Parents were consanguineous, and a similarly affected sister died as a neonate. The authors concluded that the patient presented with a variant form of OFD Type II, with tongue lipomas instead of hamartomas. 

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