Ocular coloboma
(ranging from small retinal coloboma to anophthalmia) | 80% | Light sensitivity, refractive error, loss of upper visual field/central visual field, blindness, ↑ risk of retinal detachment |
|
Choanal atresia/stenosis
| 45% | Interferes w/breathing & feeding May require several surgeries to remain patent Unilateral stenosis may be easily missed.
|
Cranial nerve dysfunction/
anomaly
| I: hyposmia or anosmia | 90% | ↓ or absent sense of smell predicts hypogonadotropic hypogonadism. |
| VII: facial palsy | 40% | Asymmetric face or lack of facial expression Facial nerve often has an aberrant course, which correlates w/SNHL & can be damaged during cochlear implant surgery.
|
| VIII: SNHL &/or vestibular dysfunction | >95% |
|
| IX/X: suck & swallow, abnormal GI motility | 60%-80% | Lack of coordination of suck & swallow, aspiration, &/or gastroesophageal reflux Oral defensiveness Digestive & constipation issues
|
|
Ear malformations
| Abnormal auricle | 90% |
|
| Ossicular malformations | 80% | Conductive hearing loss, which may fluctuate w/middle ear disease Complex mixed hearing loss may present as a wedge-shaped audiogram.
|
| Mondini defect | 90% | SNHL, esp high frequency |
| Semicircular canal defect | 94% | Affects balance & visual processing, → delayed motor development |
|
Cleft lip and/or palate
| 25%-50% | |
|
Endocrine 1
| Hypogonadotropic hypogonadism | 50%-70% | Micropenis, cryptorchidism Small labia, uterine abnormality Delayed or absent puberty & infertility Often in combination w/anosmia
|
| Growth deficiency | 70% | May be due to growth hormone deficiency (in ~10%) |
| Hypothyroidism | 15%-20% | |
|
Developmental delay / Intellectual disability
| >90% / 60% | DD due to sensory deficits (hearing, vision, balance), illness, & hospitalizations |
|
Cardiovascular malformation
| 74% |
|
|
Tracheoesophageal anomalies
| 20% | Esophageal atresia w/or w/o fistula, laryngotracheomalacia, & gastroesophageal reflux, → feeding & breathing difficulties, aspiration (pneumonia), & sinusitis |
|
Brain
| Clivus hypoplasia
Hypoplasia/J-shaped sella | 95% | |
| Other | 50% | Microcephaly, ventriculomegaly, Dandy-Walker malformation, hypoplastic corpus callosum (30%), hypoplasia of cerebellar vermis (50%), brain stem, &/or frontal lobe |
|
Seizures
| 30% | Onset at any age, mostly general tonic-clonic convulsions as well as absence epilepsy |
|
Renal anomalies
| 30% | Missing, hypoplastic, horseshoe, ectopic, or cystic kidney Vesicoureteral reflux & hydronephrosis
|
