Syndrome | Micro- gnathia | Maxillary Hypoplasia (Small Nasal Capsule) | Choanal Atresia or Stenosis | Cranial Base Anomalies | Hypotonia of Pharynx | Macro-glossia | Other Anomalies |
Achondroplasia | + | + | + | ||||
Apert | + | + | + | ||||
Beckwith-Wiedemann | + | + | CNS anomalies | ||||
Camptomelic and dysplasia | + | Tracheal, bronchial cartilage anomalies; | |||||
Cerebro- costo- mandibular | + | ||||||
Charge association | + | + | CNS anomalies | ||||
Crouzon | + | + | + | Tracheal ring anomalies | |||
De Lange | + | + | CNS anomalies | ||||
Diastrophic dysplasia | + | + | |||||
Femoral dysgenesis | + | ||||||
Fetal alcohol | + | + | CNS anomalies | ||||
Fetal hydantoin | + | CNS anomalies | |||||
Freeman-Sheldon | + | Multiple contractures | |||||
Fronto- metaphyseal dysplasia | + | + | Cranial overgrowth; scoliosis | ||||
Hallermann-Streiff | + | + | |||||
Hemifacial microsomia | + | + | Pharyngeal asymmetry | ||||
Holo- prosencephaly sequence | + | + | + | + | CNS anomalies | ||
Larsen's | + | Connective tissue dysplasia | |||||
Marshall- Smith | + | + | + | + | + | CNS anomalies | |
Nager | + | + | + | + | |||
Otopalato- digital | + | + | |||||
Pfeiffer | + | + | + | Tracheal ring anomalies | |||
Prader-Willi | + | CNS anomalies | |||||
Pykno- dysostosis | + | + | + | ||||
Robin sequence (isolated) | + | ||||||
Rubinstein-Taybi | + | + | + | + | CNS anomalies | ||
Shprintzen | + | + | Laryngeal web; retrognathia | ||||
Shprintzen-Goldberg | + | + | + | + | |||
Spondylo- epiphyseal dysplasia | + | ||||||
Stickler | + | + | + | Short genioglossus; soft tracheal cartilage | |||
Storage disorders (lysosomal, etc) | + | ||||||
Steinert | + | + | Myotonia | ||||
Townes | + | + | |||||
Treacher Collins | + | + | + | + | |||
Turner | + | Short neck | |||||
Chromosome disorders | |||||||
Down syndrome (Trisomy 21) | + | + | + | + | CNS anomalies | ||
Trisomy 18 | + | + | + | CNS anomalies | |||
Trisomy 13 | + | + | + | CNS anomalies; holoprosencephaly | |||
Trisomy 4p | + | + | CNS anomalies; short neck | ||||
6q-deletion | + | CNS anomalies; laryngeal dysfunction |
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