Phenotypes associated with the disease Blepharophimosis-ptosis-epicanthus inversus syndrome plus (ORPHA:572333):
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:572333)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:572333)
- Epicanthus inversus (HP:0000537): A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:572333)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:572333)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- Abnormality of refraction (HP:0000539): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- Decreased lacrimation (HP:0000633): Abnormally decreased lacrimation, that is, reduced tear production. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- 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:572333)
- Lacrimal gland aplasia (HP:0007656): A congenital defect of development characterized by absence of the lacrimal gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- Abnormal lacrimal duct morphology (HP:0011481): An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:572333)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- 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: Occasional (HP:0040283). (ORPHA:572333)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Lacrimal gland hypoplasia (HP:0007732): Underdevelopment of the lacrimal gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- S-shaped palpebral fissures (HP:0007835). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Female infertility (HP:0008222). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Decreased circulating progesterone (HP:0008233): An reduced concentration of progesterone in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Streak ovary (HP:0010464): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Ectopic lacrimal punctum (HP:0010748): Positioning of a lacrimal punctum other than at the medial margins of the eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Punctal stenosis (HP:0025572): Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Supernumerary lacrimal punctum (HP:0032514): A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:572333)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:572333)