Table 3.
Clinical features of Ex 38/39 KMT2D MV disorder, Kabuki syndrome, and CHARGE syndrome. Note: Listed brain malformations, external ear abnormalities, and internal ear abnormalities are not observed in all patients and are not exhaustive but rather are a summary of features that have been classically/commonly described.
| Physical feature | Ex 38/39 KMT2D MVs (n = 17)† | Kabuki syndrome | CHARGE syndrome |
|---|---|---|---|
| Athelia/hypoplastic nipples | Common | Rare | Rare |
| Brain malformation | Common | ‡Common | Common |
| - Hypoplasia of pons | - Shortened or misshapen pons - Uplifted and hypoplastic inferior vermis |
- Hypoplasia and/or clefting of basiocciput - Hypoplasia of vermis - Hypo/aplasia of olfactory bulbs/sulci |
|
| Branchial sinus/neck pits | Common | Rare | Rare |
| Choanal atresia | Common | Rare | Common |
| Cleft lip/palate | Rare | Common | Common |
| Congenital heart disease | Common | Common | Common |
| Dental abnormalities | Common | Common | Common |
| Ear abnormalities (external) | Common | Common | Common |
| - Small - Variably dysplastic +/− tags or pits |
- Large, prominent, cupped | - Short, small ear with minimal lobe - Snipped off helix and prominent anti-helix |
|
| Ear abnormalities (internal) | Common | ‡Common | Common |
| - Absent posterior SCCs - Misshapen vestibules - Cochlear hypoplasia - Cochlear aperture stenosis - Ossicular anomalies |
- Cochlear anomalies (thickened, dysmorphic modioli with variable cochlear aperture stenosis) - Ossicular anomalies - Flared morphology of the IACs - Low tegmen typani - Oval window atresia - SCC abnormalities less common |
- Absence or hypoplasia of all SCCs - Cochlear and vestibular hypoplasia - Cochlear aperture stenosis - Ossicular anomalies |
|
| Eye abnormalities | Rare | Rare | Common |
| Feeding difficulties | Common | Common | Common |
| Hearing loss | Common | Common | Common |
| Immunodeficiency | Common | Common | Common |
| Lacrimal duct abnormalities | Common | Rare | Rare |
| Renal abnormalities | Rare | Common | Common |
| Short stature | Common | Common | Common |
| Thyroid abnormalities | Common | Rare | Rare |
†:
Patients from Cuvertino et al. (9), Baldridge et al. (3), Badalato et al. (3), Sakata et al. (1) and proband (1)
‡:
Not previously reported as common but retrospective review of our patients suggests otherwise