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townes_brock_syndrome [2026/06/15 17:04] – Scott Larsontownes_brock_syndrome [2026/06/15 19:14] (current) – [Main Features] Scott Larson
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       * Preauricular skin tags       * Preauricular skin tags
       * Microtia       * Microtia
-    * thumb malformations +    * Thumb malformations 
       * preaxial polydactyly       * preaxial polydactyly
       * triphalangeal thumbs       * triphalangeal thumbs
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 ====Eye Findings==== ====Eye Findings====
 ===Cranial Nerve Dysinnervation Anomalies=== ===Cranial Nerve Dysinnervation Anomalies===
-  * **[Duane syndrome](https://www.openevidence.com/rare-disease/duane-retraction-syndrome) (type 1)** — limited abduction due to absence or hypoplasia of the abducens nerve (CN VI), confirmed on MRI in at least one genetically confirmed case +  * Duane syndrome(type 1) 
-  * **Möbius sequence** — facial diplegia from CN VII involvement +  * Möbius sequence 
-  * **Marcus Gunn jaw winking** — aberrant trigeminal-oculomotor synkinesis +  * Marcus Gunn jaw winking 
-  * **Gustatory lacrimation** (crocodile tears) — aberrant reinnervation of the lacrimal gland +  * Gustatory lacrimation (crocodile tears) — aberrant reinnervation of the lacrimal gland 
-  * **Absent emotional tearing**+  * Absent emotional tearing
 ===Other ocular findings=== ===Other ocular findings===
-  * **Coloboma** — both iris coloboma and chorioretinal coloboma, the latter of which can cause significant vision loss +  * Coloboma — both iris coloboma and chorioretinal coloboma 
-  * **Microphthalmia** — abnormally small globe, reported rarely +  * Microphthalmia — rare 
-  * **Lamellar cataract** — congenital lens opacity +  * Lamellar cataract 
-  * **Epibulbar dermoid** — benign choristoma on the ocular surface +  * Epibulbar dermoid — benign choristoma on the ocular surface 
-  * **Optic nerve atrophy** +  * Optic nerve atrophy 
-  * **Retinal dystrophy** — described in at least one case report as a novel finding+  * Retinal dystrophy — described in at least one case report as a novel finding
 ====Other Findings==== ====Other Findings====
   * More common   * More common