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Frontonasal Dysplasia Frontonasal Dysplasia Frontonasal dysplasia is a developmental field defect of cran- f. Ocular anomalies iofacial region characterized by hypertelorism and varying i. Hypertelorism degrees of median nasal clefting. In 1967, DeMeyer first ii. Epicanthal folds described the malformation complex ‘median cleft face syn- iii. Narrowing of the palpebral fissures drome’ to emphasize the key midface defects. Since then several iv. Accessory nasal eyelid tissue with secondary terms have been introduced: frontonasal dysplasia, fron- displacement of inferior puncti colobomas tonasal syndrome, frontonasal dysostosis, and craniofrontonasal v. Epibulbar dermoids dysplasia. vi. Upper eyelid colobomas vii. Microphthalmia GENETICS/BASIC DEFECTS viii. Vitreoretinal degeneration with retinal detachment ix. Congenital cataracts 1. Inheritance g. Facial anomalies a. Sporadic in most cases i. Widow’s peak configuration of the anterior hair- b. Rare autosomal dominant inheritance with variable line in the forehead expression ii. Median cleft of upper lip c. Rare autosomal recessive inheritance iii. Median cleft palate d. Rare X-linked dominant inheritance iv. Preauricular tag 2. Rare association with chromosome anomalies v. Absent tragus a. Partial trisomy 2q and partial monosomy 7q from a vi. Low-set ears balanced maternal t(2;7)(q31;q36) h. Other anomalies b. 22q11 microdeletion i. Conductive deafness c. Reciprocal translocation t(15;22)(q22;q13) ii. Hypoplastic frontal sinuses d. Complex translocation involving chromosomes 3, 7, iii. Cardiac anomalies, especially teratology of and 11 Fallot 3. Rare variants of frontonasal dysplasia/malformation with iv. Limb anomalies variable inheritance patterns a) Clinodactyly 4. Embryologically classified as a developmental field b) Polydactyly defect c) Syndactyly 5. Extreme variable phenotypic expression d) Tibial hypoplasia v. Umbilical hernia vi. Cryptorchidism CLINICAL FEATURES 2. Other syndromes associated with frontonasal dysplasia or 1. Pure frontonasal dysplasia frontonasal malformation a. Variable mental retardation a. Autosomal dominant form of frontonasal dysplasia b. Inheritance pattern with vertebral anomalies i. Sporadic in majority of cases b. Acromelic frontonasal dysplasia ii. Familial transmission in few cases i. Autosomal recessive disorder c. Cranium bifidum occultum ii. Similar frontonasal “dysplasia” d. CNS anomalies iii. Rare agenesis of the corpus callosum i. Frontal cephalocele iv. Tibial hypoplasia ii. Meningocele/meningoencephalocele v. Polydactyly (duplicated hallux) iii. Agenesis of the corpus callosum c. Craniofrontonasal dysplasia iv. Mild holoprosencephaly i. Possible X-linked disorder v. Hydrocephalus ii. Rare mental retardation e. Nasal anomalies iii. Hypertelorism i. Mild colobomas of the nostril iv. Craniosynostosis ii. Flattening of the nose with widely separated v. Facial asymmetry nares vi. Broad nasal root iii. A broad nasal root vii. Bifid nasal tip iv. Broad nasal tip viii. Syndactyly of toes and fingers v. Notching or clefting of alae nasi (cleft nose) ix. Split nails vi. Nasal tag x. Broad first toe 431 432 FRONTONASAL DYSPLASIA d. Acrocallosal syndrome 3. Prognosis depending on severity of defects i. Autosomal dominant or autosomal recessive disorder a. Normal intelligence in most patients ii. Severe mental retardation b. Mental retardation affecting 12% of cases without iii. Hypertelorism CNS abnormalities iv. Hypoplastic or absent corpus callosum c. Up to 50% of cases with mental retardation compli- v. Prominent forehead cated by agenesis of the corpus callosum vi. Small nose vii. Broad nasal bridge DIAGNOSTIC INVESTIGATIONS viii. Normal nasal tip ix. Cardiac defects 1. Radiography, CT, MRI of the brain x. Post-axial polydactyly of hands and feet a. Anterior cranium bifidum xi. Pre-axial polydactyly of feet b. Agenesis of the corpus callosum xii. Syndactyly of toes c. Lipoma of the corpus callosum xiii. Clinodactyly d. Arhinencephaly e. Oral-facial-digital syndrome e. Hydrocephalus i. X-linked disorder 2. Chromosome analysis for chromosome etiology ii. Variable mental retardation iii. Agenesis of the corpus callosum GENETIC COUNSELING iv. Median cleft lip and palate 1. Recurrence risk v. Lobated/bifid tongue a. Patient’s sib vi. Clinodactyly i. Autosomal dominant disorder: not increased in vii. Syndactyly de novo case unless a parent is affected viii. Polydactyly ii. Autosomal recessive disorder: 25% f. Oculo-auriculo-frontonasal dysplasia iii. X-linked dominant disorder: 50% when the i. Frontonasal dysplasia mother is a carrier ii. Ocular dermoids iv. Chromosome disorder: not increased in a de iii. Eyelid colobomata novo case; risk of unbalanced segregation from a iv. Preauricular tags carrier parent g. Fronto-facio-nasal dysplasia b. Patient’s offspring i. Autosomal recessive disorder i. Autosomal dominant disorder: 50% ii. Frontonasal dysplasia ii. Autosomal recessive disorder: not increased iii. Ocular dermoids unless the spouse is a carrier iv. Preauricular tags iii. X-linked dominant disorder: 50% v. Cerebral lipoma iv. Chromosome disorder: not surviving to repro- h. Acro-fronto-facio-nasal dysplasia I ductive age i. Macrostomia 2. Prenatal diagnosis ii. Broad and notched nasal tip a. Ultrasonography iii. Fibular hypoplasia i. Hypertelorism iv. Short stature ii. Frontonasal cephalocele i. Acro-fronto-facio-nasal dysplasia II iii. Agenesis of the corpus callosum i. Autosomal recessive disorder iv. Median cleft lip ii. Frontonasal dysplasia b. Amniocentesis for associated chromosome anomaly iii. Microcephaly 3. Management iv. Nasal midline groove with blind dimples a. Speech therapy v. Broad thumbs b. Maxillofacial surgeries for functional and cosmetic vi. Syndactyly improvement j. Greig acrocephalopolysyndactyly i. Cleft lip/palate i. Autosomal dominant disorder ii. Hypertelorism ii. Mild mental retardation iii. Nose iii. Mild features of frontonasal dysplasia c. Psychosocial and/or psychiatric support iv. Macrocephaly v. Broad nasal root REFERENCES vi. Normal nasal tip Chen H, Rightmire D, Fowler M, et al.: Frontonasal malformation and dup(2q) vii. Post-axial polydactyly of hands syndrome. Am J Med Genet (Suppl 4):191–192, 1988. viii. Pre-axial polysyndactyly of feet Chen H, Rightmire D, Zapata C, et al.: Frontonasal dysplasia and arrhinen- ix. Broad thumbs and halluces cephaly resulting from unbalanced segregation of a maternal t(2;7) x. Syndactyly (q31;q36). Dysmorphol Clin Genet 6:99–106, 1992. k. Frontonasal dysplasia-cardiac defects Chervenak FA, Tortora M, Mayden K, et al.: Antenatal diagnosis of median cleft syndrome: sonographic demonstration of cleft lip and hypertelorism. i. Frontonasal dysplasia Am J Obstet Gynecol 149:94–97, 1984. ii. Microcephaly Cohen MM Jr: Craniofrontonasal dysplasia. Birth Defects Original Article iii. Cardiac defects, especially tetralogy of Fallot Series XV(5B):85–89, 1979. FRONTONASAL DYSPLASIA 433 Cohen MM Jr, Sedano HO, Gorlin RJ, et al.: Frontonasal dysplasia (median Qureshi IL, Naeem-uz-Zfar K: Experience with frontonasal dysplasia of varying cleft face syndrome): comments on etiology and pathogenesis. Birth severity. J Pediatr Surg 7:885–889, 1996. Defects Original Article Series 7:117–119, 1971. Reich EW, et al.: A clinical investigation into the etiology of frontonasal DeMeyer W: The median cleft face syndrome: differential diagnosis of cranium dysplasia. Am J Hum Genet 33:88A, 1981. bifidum occultum, hypertelorism and median cleft nose, face and palate.. Rohasco SA, Massa JL: Frontonasal syndrome. Br J Plast Surg 21:244– Neurology 17:961–971, 1967. 249, 1968. Dubey SP, Garap JP: The syndrome of frontonasal dysplasia, spastic paraple- Roubicek M, et al.: Frontonasal dysplasia as an expression of holoprosen- gia, mental retardation and blindness: a case report with CT scan findings cephaly. Eur J Pediatr 137:229–231, 1981. and review of literature. Int J Pediatr Otorhinolaryngol 54:51–57, 2000. Sedano HO, Gorlin RJ: Frontonasal malformation as a field defect and in Edwards WC, et al.: Median cleft face syndrome. Am J Ophthalmol 72:202– syndromic associations. Oral Surg Oral Med Oral Path 65:704–710, 205, 1971. 1986. Fox FW, et al.: Frontonasal dysplasia with alar clefts in two sisters. Plast Sedano HO, Cohen MM, Jirasek J, et al.: Frontonasal dysplasia. J Pediatr Reconstr Surg 57: 553–561, 1976. 6:906–913, 1970. Frattarelli JL, Boley TH, Miller RA: Prenatal diagnosis of frontonasal dysplasia Slaney SF, Goodman FR, Eilers-Walsman BLC, et al.: Acromelic frontonasal (median cleft syndrome). J Ultrasound Med 1:81–83, 1996. dysostosis. Am J Med Genet 83:109–116, 1999. Fryburg JS, Persing JA, Lin KY: Frontonasal dysplasia in two successive Smith DW, Cohen MM Jr: Widow’s peak, scalp-hair anomaly and its relation generations. Am J Med Genet 46:712–714, 1993. to ocular hypertelorism. Lancet 2:1127–1128, 1973. Fuenmayor HM: The spectrum of frontonasal dysplasia in an inbred pedigree. Stevens CA, Qumsiyeh MB: Syndromal frontonasal dysostosis in a child with Clin Genet 17:137, 1980. a complex translocations involving chromosomes 3, 7, 11. Am J Med Gollop TR: Fronto-facio-nasal dysostosis. A new autosomal recessive syn- Genet 55:494–497, 1995. drome. Am J Med Genet 10:409–412, 1981. Stratton RF, Payne RM: Frontonasal malformation with tetralogy of Fallot Guinon-Almeida ML, Richieri-Costa A, Saavedra D, et al.: Frontonasal dysplasia: associated with a submicroscopic deletion of 22q11. Am J Med Genet analysis of 21 cases and literature review. Int J Oral Surg 25:91–97, 1996. 69:287–289, 1997. Kinsey JA, Streeten BW: Ocular
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