NF-II – Bilat Schwannomas, meningiomas, gliomas, cataracts/lenticular opacities, HL is retrocochlear and usually postlingual - MERLIN gene
Stickler – congenital vitreous anomaly AND any 3 of: myopia before age 6, retinal detachment/lattice degen, joint hypermobility, SNHL, midline cleft (may be sumucous). May have Robin Seq, HL may be mixed pre/post lingual, 50% blind by adolescence, marfanoid habitus
Waardenburg – Four types: Type I = SNHL, White Forelock, heterochromia/hopoplastic blue eyes, dystopia canthorum. Can also have synophrys, broad nasal root, alar hypoplasia. Type 2 = no dystopia canthorum. Type 3 = Type 1 + upper limb contracture. Type 4 = incld Hirschprung. For all types, HL is prelingual.
Treacher Collins – 1 st branchial arch abnormalities of midface hypoplasia, micrognathia, macrostomia, colobomas of lower lids, downward palpebral fissures, Cleft Palate, CHL (EE/ME anomalies).
Crouzon – craniosynostosis, hypertelorism, midface hypoplasia, exophthalmos. 1/3 CHL due to EE/ME anomalies.
Jervell Lange-Nielsen – Profound prelingual SNHL, syncope, sudden death (prolonged QT). Syncope w/ exertion or emotion. High mortality rate sig reduced w/ Dx and Tx.
Pendred – Prelingual (usu profound) SNHL and Goiter. T-bone abnormalities (Mondini, DVA). Goiter may develop later in childhood but usually euthyroid.
Usher – Most common AR syndromic HL, has prelingual SNHL plus retinitis pigmentosa. ½ of all Deaf-Blinds in US. 3 Types: USH1 – includes vestibular areflexia (no caloric response) and profound HL, USH2 – nl vestibular fct and use HA, USH3 – progressive HL and vestibular probs. In all 3, RP is progressive, starting w/ nyctaltopia (night blindness). Electroretinography (ERG) for early RP dx.