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