Phenotypes associated with the disease Marcus-Gunn syndrome (ORPHA:91412):
- Marcus Gunn jaw winking synkinesis (HP:0025186): Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:91412)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91412)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91412)
- Unilateral ptosis (HP:0007687): A unilateral form of ptosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91412)
- Abnormal fifth cranial nerve morphology (HP:0010824): Any structural abnormality of the fifth cranial nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91412)
- Hypotropia (HP:0025584): A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91412)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91412)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91412)
- Anisometropia (HP:0012803): Inequality of refractive power of the two eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91412)
- Double elevator palsy (HP:0020041): A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91412)
- Superior rectus muscle underaction (HP:0031747): Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91412)
- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Abnormality of the sense of smell (HP:0004408): An anomaly in the ability to perceive and distinguish scents (odors). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Morning glory anomaly (HP:0025514): An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Abnormal ear morphology (HP:0031703): Any structural anomaly of the ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91412)