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Group of disorders characterized by frequent episodic neuromuscular disturbances, congenital malformations such as cleft palate, malformation of the hands and feet, shortened limbs, and differing degrees of mental retardation. At least nine types of oral-facial-digital syndrome have been identified.

  • OFD Type I (Psaume Syndrome; Papillon-Leage-Psaume Syndrome): 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.
  • 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-Baraister 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.
  • 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).
  • 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 anomalities): 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 Syndrome with Fibula aplasia): Similar to OFD type IX except that the retinal abnormalities are associated with severe brain atrophy.
  • OFD Type XI (Toriello Syndrome): Characterized by multiple hamartomas of the oral cavity, lobulated tongue, alveolar frenula, small median cleft of the upper lip, atrophy of the frontal and parietal cerebral lobes, and broad big toes. Autosomal recessive.

All modes of transmission are reported, with mode depending on the type (see Classification). However, in the majority of affected males, it is X-linked dominant with lethality.


Based on the clinical aspects and ...

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