70 Oro-facio-digital Syndrome, Type II
Oro-facio-digital Syndrome, Type II 787
OFD2, oral-facial-digital syndrome type II, Mohr syndrome
Low nasal bridge, cleft tongue, polydactyly of hands, polysyndactyly of halluces
Frequency: Rare, 1 in 300,000 live births; fewer than 100 published cases.
Genetics
Autosomal recessive (OMIM 252100).
Clinical Features
• Short stature, normal intelligence or mild mental retardation, normal hair
• Midface hypoplasia
• Dystopia canthorum, epicanthal folds
• Low nasal bridge, broad/bifid nasal tip
• Median cleft of upper lip,cleft palate,cleft/lobulat- ed tongue with papilliform protuberances, anky- loglossia, multiple frenula, missing central inci- sors
• Micrognathia
• Conductive hearing loss
• Postaxial/preaxial polydactyly of hands and feet, syndactyly, brachydactyly (average number of fingers per hand 5.8)
• Polysyndactyly of halluces Differential Diagnosis
• Mohr-Majewski syndrome
• Other oro-facio-digital syndromes
Radiographic Features Hands and Feet
• Bilateral polydactyly (most often postaxial) of hands (more rarely, unilateral hexadactyly or syn- dactyly between finger 3 and 4 with extra bones in the web)
• Bilateral polysyndactyly of halluces (more rarely, notching or duplication of distal phalanx resting on a broad 1st metatarsal)
• Duplication of medial cuneiform and navicular bones
• Clinodactyly, brachydactyly, camptodactyly Skull
• High-arched or cleft palate
• Hypoplasia of body of mandible
• Supernumerary sutures in skull
Bibliography
Anneren G, Arvidson B, Gustavson KH, Jorulf H, Carlsson G.
Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet 1984;
26: 178–86
Balci S, Guler G, Kale G, Soylemezoglu F, Besim A. Mohr syn- drome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Prenat Diagn 1999; 19: 827–31
Digilio MC, Marino B, Giannotti A, Dallapiccola B. Orocar- diodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. J Med Genet 1996;
33: 416–8
Hsieh YC, Hou JW. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet 1999; 86: 278–81
Levy EP, Fletcher BD, Fraser FC. Mohr syndrome with subclin- ical expression of the bifid great toe. Am J Dis Child 1974;
128: 531–40
Prpic I, Cekada S, Franulovic J. Mohr syndrome (oro-facial- digital syndrome II): a familial case with different pheno- typic findings. Clin Genet 1995; 48: 304–7
Silengo MC, Bell GL, Biagioli M, Franceschini P. Oro-facial-dig- ital syndrome II: transitional type between the Mohr and Majewski syndromes: report of 2 new cases. Clin Genet 1987; 31: 331–6
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Oro-facio-digital Syndrome, Type II 788
Fig. 70.1 a, b. Patient 1, age 7 years. Hypoplastic facial bones, prominent glabella, long philtrum, micrognathia
a b
Fig. 70.2 a, b. Patient 2, age 11 years. Skull is relatively small, maxilla and body of mandible are mildly hypoplastic. Note cleft palate
a b
Oro-facio-digital Syndrome, Type II 789
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Fig. 70.3. aPatient 3, newborn. (From archive of Dr. P. Balestrazzi, Parma, Italy, with permission). Note postaxial hexadactyly, camptodactyly of fingers 2 and 3, and short middle phalanx of 5th finger with clinodactyly.
bPatient 4, age 1 year. Bilateral forking of 3rd metacarpals, polydactyly, and camptodactyly of 5th digits. Metacarpals of thumb and middle phalanges of digits 2–6 are short on both sides. (Reprinted, with permission, from Anneren et al. 1984)
a
b
Oro-facio-digital Syndrome, Type II 790
Fig. 70.4 a, b. Patient 3, a when newborn and b at age 12 years. On the left hallux varus, note three os- sified nuclei for medial cuneiform, short 1st metatarsal, reduplicated proximal phalanx, and partially reduplicated distal phalanx of the hallux (very broad and short, with indentation of its distal margin).
On the right foot, duplication of the medial cuneiform and mis- shapen, distally indented distal phalanx of hallux can be observed.
(From archive of Dr. P. Balestrazzi, Parma, Italy, with permission)
a
b
