gi035 Cleft Related Genetic Syndromes/Diseases Page 1 of 4

Cleft Related Genetic Syndromes/Diseases

The following table was extracted from a table on Embryogenesis by Dr. Harold C. Slavkin; Director, National Institute of Dental & Craniofacial Research (NIDCR) :

OMIM OMIM INHERI- DESCRIPTION OF TYPE GENE CHROMOSOMAL NUMBER NUMBER GENE NAME SYNDROME TANCE CRANIOFACIAL (1) SYMBOL LOCATION FOR FOR (2) FEATURES (3) GENE SYNDROME ECM Collagen, type COL11A2 6p21.3 120290 Stickler syndrome, 184840 AD cleft , XI, alpha-2 type II micrognathia, chain , severe myopia, flat facies, dental anomalies, deafness Osmed syndrome 215150 AR saddle , cleft palate, progressive deafness Shprintzen- 182212 AD craniosynostosis, Goldberg syndrome microcephaly, maxillary and mandibular hypoplasia, palatal shelf soft tissue hypertrophy, cleft palate, prominant nose, narrow palpebral fissures ECM Glypican-3 GPC3 Xq26 300037 Simpson 312870 X disproportionately large dysmorphia head, coarse facies, syndrome large protruding jaw, wide nasal bridge, upturned nasal tip, large , thickened , central cleft of lower , midline groove of and inferior alveolar ridge, enlarged tongue, short neck ENZ Phenylalanine PAH 12q24.1 261600 Phenylketonuria 261600 AR microcephaly, hydroxylase occasional cleft palate, long simple , thin upper lip, flattened nasal bridge, epicanthus, upturned nose IS Retinoblastoma- RB1 13q14.1-q14.2 180200 Retinoblastoma 180200 AD cleft palate, high 1 forehead, prominent eyebrows, broad nasal bridge, bulbous tip of the nose, large mouth with thin upper lip, long philtrum, prominent earlobes

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SEC Sonic hedgehog SHH 7q36 600725 Holoprosencephaly, 142945 AD cyclopia, ocular type 3 hypotelorism, proboscis, midface hypoplasia, single , midline cleft upper lip, premaxillary agenesis TM Fibroblast FGFR2 10q26 176943 Crouzon 123500 AD craniosynostosis, growth factor craniofacial parrot-beaked nose, receptor-2 dysostosis short upper lip, hypoplastic maxilla, relative mandibular prognathism, shallow orbit Jackson-Weiss 123150 AD craniosynostosis, syndrome midfacial hypoplasia Apert syndrome 101200 AD craniosynostosis, brachysphenocephalic acrocephaly, flat facies, high narrow palate Pfeiffer syndrome 101600 AD mild craniosynostosis, flat facies, acrocephaly Beare-Stevenson 123790 AD craniosynostosis, cutis gyrata cloverleaf , cleft syndrome palate or uvula, craniofacial anomalies TM Peroxisomal PXMP3 8q21.1 170993 Zellweger 170993 AD high forehead, membrane syndrome-3 dolichoturricephaly, protein-3 large fontanels, flat , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic DTDST 5q32-q33.1 222600 Diastrophic 222600 AR hypertrophic auricular dysplasia dysplasia cartilage, cleft palate, sulfate micrognathia transporter Neonatal osseous 256050 AR micrognathia, cleft dysplasia I palate, flat nasal bridge, mid-face hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus 109400 AD macrocephaly, broad syndrome (Gorlin facies, frontal and syndrome) biparietal bossing, mild mandibular prognathism, odontogenic keratocysts of jaws, misshapen and/or carious teeth, cleft lip and palate, ectopic calcification of falx cerebri

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TF Microphthalmia- MITF 3p14.1-p12.3 156845 Waardenburg 193510 AD wide nasal bridge, associated syndrome, type IIA short philtrum, cleft lip transcription or palate, deafness factor Pallister-Hall 146510 AD short nose, flat nasal syndrome bridge, multiple buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box PAX3 2q35 193500 Waardenburg 193500 AD wide nasal bridge, homeotic gene- syndrome, type I short philtrum, cleft lip 3 or palate, occasional deafness, dystopia canthorum TF Sry (sex- SOX9 17q24.3-q25.1 211970 Campomelic 211970 AR small chondrocranium, determining dysplasia large neurocranium, region Y)-box 9 occasional platybasia, cleft palate, retroglossia, micrognathia, flat nasal bridge, malformed ears TF Twist TWIST 7p21 601622 Saethre-Chotzen 101400 AD craniosynostosis, syndrome acrocephaly, brachycephaly, flat facies, thin long pointed nose, cleft palate, cranial asymmetry, ptosis, malformed ears UNK DiGeorge CATCH22 22q11 188400 DiGeorge 188400 AD low-set ears, short syndrome syndrome ears, small mouth, chromosome submucous or overt region palatal cleft, cleft lip, bulbous nose, square nasal tip, short philtrum, micrognathia, Velocardiofacial 192430 AD Pierre Robin syndrome, syndrome cleft palate, small open mouth, myopathic facies, retrognathia, prominent nose with squared-off nasal tip UNK Treacle TCOF1 5q32-q33.1 154500 Treacher Collins 154500 AD malar hypoplasia, cleft mandibulofacial palate, mandibular dysostosis hypoplasia, macrostomia, malformed ears, sensorineural deafness, coloboma of lower eyelid

NOTES:

1. CS; cytoskeletal protein, ECM; extracellular matrix protein; ENZ; enzyme, IS, intracellular signalling protein, NP; nuclear protein, SEC; secretory protein, TM; transmembrane protein, TF; transcription factor, UNK; unknown 2. AD; autosomal dominant, AR; autosomal recessive, X; X-linked, XD; X-linked dominant, XR; X-linked recessive

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3. The following description is only a summary of the craniofacial features of the diseases and disorders. For detail information regarding defects in other affected tissues and organs, refer to the Online Mendelian Inheritance in Man (OMIM) at http://www.ncbi.nlm.nih.gov/

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