| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital myogenic ptosis |
Is a |
False |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Congenital dysgenetic ptosis |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Congenital ptosis of upper eyelid |
Is a |
False |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Congenital myogenic ptosis |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. |
Is a |
False |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Congenital ptosis of left upper eyelid (disorder) |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Congenital ptosis of right upper eyelid (disorder) |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. |
Is a |
False |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
Is a |
True |
Congenital ptosis (disorder) |
Inferred relationship |
Some |
|
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