TABLE 1.
Neurocristopathies with Potential Causes and Clinical Characteristics
| Condition | Causes | Characteristics |
|---|---|---|
| Velocardiofacial syndrome | 22q11.2 locus deletion | Prevalence: 1: 4,000, spontaneous mutation in 90% |
| COMT, TBX1 | Etiopathophysiology: Deletion disrupts neural crest cells during organogenesis | |
| Other names: DiGeorge syndrome, Shprintzen syndrome, CATCH22 | ||
| Key Characteristics: pharyngeal dysfunction, cardiac anomalies (most common is ventriculoseptal defect), dysmorphic facies | ||
| Affects thymus, parathyroid, arteries to face | ||
| Hypocalcemia and subsequent epileptic events | ||
| Low set ears, micrognathia, CP (usually soft palate or submucous), velopharyngeal insufficiency induced feeding difficulties, otitis media, immunodeficiency, vertical maxillary excess | ||
| Cognitive/learning problems | ||
| Psychiatric illness in 10% (bipolar, schizophrenia) | ||
| Diagnosis verified by symptoms & and FISH test (genetics test) | ||
| VPI repair occurs at 3–4 years of age | ||
| Waardenburg syndrome | SOX10 PAX3 | Prevalence: 1:40,000 |
| Hypopigmentation in the eyes and skin | ||
| White tuft of hair present on the anterior scalp | ||
| CHARGE syndrome | CHD7 | Prevalence: 1:8,500–1:10,000 |
| Complex diagnosis based on major and minor characteristics | ||
| Facial anomalies: potential for vision problems due to coloboma of the eye and microphthalmia, choanal atresia, increased likelihood of cranial nerve abnormalities | ||
| Variable presentation between patients | ||
| Treacher collins syndrome | TCOF1 (90%) | Prevalence: 1:50,000 60% spontaneous mutation |
| POLR1C, POLR1D | Autosomal Dominant inheritance | |
| Other names: Mandibulofacial Dysostosis | ||
| TCOF1 (treacle protein); key role in neural crest cell proliferation | ||
| Airway compromise, hearing loss, sleep apnea (25%), delayed motor and & speech development, CP (35%), velopharyngeal insufficiency (35%) | ||
| Facial Abnormalities: downward slanting eyes, colobomas, mandibular retrognathia, midface hypoplasia, malformed, or absent ears | ||
| Dental Anomalies: tooth agenesis, enamel defects, anterior open bite, mouth breathing, ectopic eruption | ||
| Feeding problems, language problems | ||
| Can be detected on ultrasound | ||
| Craniofacial microsomia | Genetics | Prevalence: 1:5000, M > F |
| Teratogens that cause hematoma of arteries of 1st & and 2nd branchial arches leading to vascular problems in utero. | Other names: Hemifacial microsomia, oral-mandibular-auricular syndrome, 1st and 2nd branchial arch syndrome | |
| Key Characteristic: Absence or underdevelopment of structures that arise from 1st & and 2nd pharyngeal arches | ||
| Mandible, maxilla, ear, facial soft tissue and & mm, CN VII | ||
| Disruption during first 6 weeks gestation | ||
| Vascular problem in utero affecting clotting and poor reduced facial blood supply | ||
| 2nd most common congenital facial anomaly (to CLP) | ||
| Facial Abnormalities: CLP (7–22%), malar hypoplasia, facial asymmetry, mandibular mirognathia, absence or malformed TMJ, facial clefts, facial palsy | ||
| Dental Abnormalities: delayed development, occlusal cant, impacted or missing teeth, velopharyngeal insufficiency, | ||
| Ear abnormalities: microtia, accessory auricles, abnormal ossicles | ||
| 55% also have extracranial anomalies –vertebral fusion, trismus, kidney dysfunction, cardiac abnormalities | ||
| OMENS system used to categorize disease presentation (ocular/orbital, mandibular, ear, nerve, soft tissue) | ||
| Goldenhar syndrome | Severe form of CFM | Other names: Oculoauriculovertebral syndrome (OVA) |
| Form of CFM with increased incidence of ear malformation. | ||
| OMENS system used to categorize disease presentation |