IllnessOro-facio-digital syndrome, differential diagnosis

NGS +

Oro-facio-digital syndrome (OFDS) represents a group of related disorders that affect the development of the oral cavity, facial features and digits. The OFDS symptoms vary widely. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity include a split and lobulated tongue as well as non-cancerous nodules on the tongue. Affected individuals may also have additional, missing or defective teeth, cleft palate and hyperplastic frenulae. Common facial features include cleft lip, a broad nose with a wide, flat nasal bridge and hypertelorism. Abnormalities of the fingers and toes occur as syndactyly, brachydactyly, clinodactyly and/or polydactyly. Rarer features help distinguish the different forms. The most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. Other forms are characterized by neurological problems, particularly changes in brain structure, bone abnormalities, visual disturbances and heart defects. The OFD1 gene is associated with OFDS. Mutations in this gene cause OFDS type I; types I and VII cannot be distinguished clinically. OFDS type I is inherited in an X-linked dominant pattern. Most other forms of oral-facial-digital syndrome are inherited in an autosomal recessive manner. Because the molecular genetic yield is less than 85%, a negative DNA test result does not constitute exclusion of the clinical suspicion.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1188/

• Alias: Oral-facial-digital syndrome
• Alias: Oro-facio-digital syndrome
• Alias: Dysplasia linguofacialis
• Alias: Mohr-Majewski syndrome (TCTN3)
• Alias: Orodigitofacial dysostosis
• Alias: Orodigitofacial syndrome
• Alias: Orofaciodigital syndrome
• Allelic: Acrocallosal syndrome (KIF7)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 2 (NEK1
• Allelic: Hydrolethalus syndrome 2 (KIF7)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Al-Gazali-Bakalinova syndrome (KIF7)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 22 (PDE6D)
• Joubert syndrome 29 (TMEM107)
• Joubert syndrome 38 (KIAA0753)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 13 (TMEM107)
• Meckel syndrome 2 (TMEM216)
• Orofaciodigital syndrome I (OFD1)
• Orofaciodigital syndrome IV (TCTN3)
• Orofaciodigital syndrome IX (SLCT1)
• Orofaciodigital syndrome V (DDX59)
• Orofaciodigital syndrome VI (CPLANE1 syn. C5orf42)
• Orofaciodigital syndrome XIV (C2CD3)
• Orofaciodigital syndrome XV (KIAA0753)
• Orofaciodigital syndrome XVI (TMEM107)
• Orofaciodigital syndrome XVII (INTU)
• Orofaciodigital syndrome XVIII (IFT57)
• Short-rib thoracic dysplasia 20 with polydactyly (INTU)
• Short-rib thoracic dysplasia 21 without polydactyly (KIAA0753)
• Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)