Congenital Syndromes

• Micrognathia
• Glossoptosis
• Cleft Palate (+/-)
• Airway management: prone positioning-> nasopharyngeal tube-> surgery (mandibular adv, trach)

• Cleft lip: yes
• cleft palate: no. Bottle feed with Haberman feeder/teat

• Progressive, autosomal dominant connective tissue disorder
• Oral-facial abnormalities (eg button nose, cleft), ocular abn (eg retinal detachment), auditory abd (high freq SNHL), skeletal abd (degenerative joint dz, pain), family hx or collagen mutation

• Van Der Woude syndrome
• Lip pits and cleft lip/palate (or one finding with a 1st degree relative with the other)

• Cardiac (conotruncal heart defects)
• Abnormal facies (Malar flattening with elongated facial height)
• Thymus deficiency
• Cleft palate
• Hypocalcemia (hypoparathyroid)
• Chromosome 22 microdeletion
• LARYNGEAL WEBS (FISH test pts with webs)
• VELOPHARYNGEAL INSUFFICIENCY (FISH test pts with VPI)
• Medialized carotid artery (if considering VPI surgery)
• Overfolding helix, cup ear
• Ophthalmologic disorders

• 1st and 2nd
• Mutations traced to chromosome 5.
• Autosomal dominant (40% with affected parent)

• Midface hypoplasia (89%)
• Down sloping palpebral fissures
• micrognathia/retrognathia (78%)
• Lower eyelid abnormalities (coloboma, absent lashes) [Goldenhar UPPER eyelid affected]
• Microtia (36%)
• Cleft (28%)
• Vision defects, CHL due to ossicular abn, choanal atresia

• Also called oculoauriculovertebral spectrum, or hemifacial microsomia
• 1st and 2nd branchial arches affected
• Ocular, ear abnormalities
• epibulbar dermoids
• upper eyelid colobomas (TC has LOWER eyelid colobomas)
• vertebral malformations

• Major:
• - coloboma (not of the eyelid), micropthalmos, anopothalmos
• - Pinna abnormality (short, wide, asymmetric ear without lobe)
• - Choanal atresia
• - Cranial nerve abn (CNII decreased smell in >90%; IX/X swallowing difficulties; VII facial paralysis)
• - ossicular, cochlear malformation, small SCC
• Minor:
• - square face, prominent forehead
• - cleft
• - hockey stick palmar crease
• - heart, kidney genital abn

• Pendred syndrome
• inherited in an autosomal recessive fashion
• affected individuals also have goiter

• A wide variety of otologic findings, can involve the external, middle, or inner ear.
• Hearing impairment (CHL, SNHL, or mixed) is the most common feature of BOR syndrome and is reported in almost 90% of affected individuals.
• Branchial anomalies occur in the form of laterocervical fistulas, sinuses, and cysts
• renal anomalies ranging from agenesis to dysplasia (25%

(1) bilateral vestibular schwannomas that usually develop by the second decade of or (2) a family history of NF2 in a first-degree relative, plus one of the following: unilateral vestibular schwannomas at less than 30 years of age, or any two of meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract

• (1) congenital vitreous anomaly
• and (2) any three of myopia with onset before age 6 years, rhegmatogenous retinal detachment or paravascular pigmented lattice degeneration, joint hypermobility with abnormal Beighton score, SNHL (audiometric confirmation), or midline clefting.

• SS type 3 tend to have moderate to severe hearing lss, patients with SS type 1 have either normal hearing or only a mild impairment, and patients with SS type 2 fall in between
• SS type 2 is due to missense or in-frame deletion mutations in COL11A2, and is unique in that there are no ocular abnormalities because COL11A2 is not expressed in the vitreous

• WS type 1 is recognized by SNHL, white forelock, pigmentary disturbances of the iris, and dystopia canthorum, a specific displacement of the inner canthi and lacrimal puncti.
• WS type 2 is like WS type 1 with absence of dystopia canthorum
• WS type 3 is like WS type 1 with the addition of hypoplasia or contracture of the upper limb
• WS type 4 involves Hirschsprung disease

• autosomal dominant
• characterized by maldevelopment of the maxilla and mandible, with abnormal canthi placement, ocular colobomas, choanal atresia, and conductive hearing loss secondary to ossicular fixation.

• hearing loss is usually congenital and severe to profound, although progressive mild to moderate SNHL is sometimes seen
• recessive
• B/L dilation of the vestibular aqueduct is common
• Euthyroid goiter, Thyroid dysfunction can be shown with a perchlorate discharge test

• Recessive
• Prolonged QT
• Hearing impairment is due to changes in endolymph homeostasis caused by malfunction of this channel and is congenital, bilateral, and severe to profound
• Effective treatment with β-adrenergic blockers reduces mortality from 71% to 6%

• Type 1 (profound), severe to profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa that develops in childhood
• type 2 (severe), moderate to severe congenital hearing loss, with uncertainty related to progression, no vestibular dysfunction, and retinal degeneration that begins in the third to fourth decade
• type 3 (variable), progressive hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa

• predominantly X-linked (approximately 80%), can be autosomal recessive or dominant
• disease of type IV collagen that is manifested by hematuric nephritis, hearing impairment, and ocular change

• 60% hereditary
• 30% syndromic
• 80% recessive

• Michels aplasia
• Scheibes aplasia
• Mondini malformation

• brachio-oto-renal syndrome
• neurofibromatosis
• osteogenesis imperfecta
• otosclerosis
• stickler syndrome
• treacher Collins syndrome
• waardenburg syndrome

• jervell and Lange-Nielsen syndrome
• pendred syndrome
• usher syndrome

• Kearns-Sayre
• myoclonic epilepsy with ragged red fibers (MERRF)
• Leber hereditary optic neuropathy
• Susceptibility to aminoglycosides

Klippel-Feil

Apert syndrome

• facial nerve anomalies
• CSF leaks through the cochleostomy