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At a glance

Group of disorders characterized by facial, oral, and digital abnormalities associated with congenital malformations such as cleft palate, malformation of the hands and feet, shortened limbs, and differing degrees of mental retardation. Thirteen subtypes of Oral-Facial-Digital Syndrome have been identified. They are now considered part of ciliopathies.

Synonyms

Psaume Syndrome; Papillon-Leage-Psaume Syndrome; Mohr Syndrome; Sugarman Syndrome; Burn-Baraitser Syndrome; Thurston Syndrome; Varadi-Papp Syndrome; Whelan Syndrome; Edwards Syndrome; Orofaciodigital Syndrome with Retinal Abnormalities; Toriello Syndrome.

Incidence

Rare, estimated to be 1:250,000.

Classification

The original classification devised 13 subtypes; however, a novel classification suggests reduction to three main subtypes: OFD I, OFD IV, and OFD VI with others anecdotal case reports.

  • OFD Type I (Psaume Syndrome; Papillon-Leage-Psaume Syndrome): Most common type characterized by malformations of the face, thickened alveolar ridges, and abnormal dentition, including absent lateral incisors, polycystic kidney disease, and digital malformations. The central nervous system may be involved in as many as 40% of cases. It is transmitted as an X-linked dominant condition with lethality in males. OFD I can be easily distinguished from the other OFD types by its X-linked dominant inheritance pattern and by the association with polycystic kidney disease, which seems to be specific to Type I. Mutation of OFD1 gene on Xp22.2.

  • OFD Type II (Mohr Syndrome): Autosomal recessive or X-linked (weak possibility) transmitted disorder with polydactyly, syndactyly, brachydactyly, lobate tongue with papilliform protuberances, cranial vault (sutures) exostosis, and neuromuscular disturbances. Laryngeal anomalies are reported. Does not have the skin and hair changes of the X-linked OFD Type I but presents with conductive hearing loss. Tachypnea is frequent.

  • OFD Type III (Sugarman Syndrome): Autosomal recessive transmitted disorder; postaxial polydactyly, bulbous nose with extra small teeth; macular red spots associated with myoclonic jerks and/or winking of the jaw and eyelids.

  • OFD Type IV (Burn-Baraitser Syndrome): Autosomal recessive transmitted disorder with short stature, preaxial and postaxial polydactyly of hands and feet, and cerebral atrophy with porencephaly. Short tibias and, hence, short limbs. Mutation in TCTN3 gene on 10q24.1.

  • OFD Type V (Thurston Syndrome): Autosomal recessive transmitted disorder with midline cleft lip and postaxial polydactyly of hands and feet.

  • OFD Type VI (Varadi-Papp Syndrome): Autosomal recessive transmitted disorder with preaxial polydactyly of toes and postaxial polydactyly in fingers; cerebellar anomalies (Dandy-Walker anomaly, hypoplasia of vermis). Multiple mutations reported in TMEM216, TMEM231, TMEM138, C5orf42, TMEM107, and KIAA0753.

  • OFD Type VII (Whelan Syndrome): OFD with congenital hydronephrosis and kidney abnormalities, facial asymmetry, and preauricular tags. Occurred in one family.

  • OFD Type VIII (Edwards Syndrome): X-linked recessive transmitted disorder presenting with retinal abnormalities (atrophic areas); bifid and hamartomatous tongue and multiple frenula.

  • OFD Type IX (Orofaciodigital Syndrome with Retinal Anomalies): Autosomal recessive or X-linked transmitted disorder. Occurred in three males. OFD with retinal anomalies (atrophic areas), median cleft upper lip, and multiple oral frenula.

  • OFD Type X (Orofaciodigital ...

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