Phenotypes associated with the disease Blepharonasofacial malformation syndrome (ORPHA:1252):
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- 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:1252)
- 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:1252)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Torsion dystonia (HP:0001304): Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1252)
- 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: Frequent (HP:0040282). (ORPHA:1252)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Abnormal eyelash morphology (HP:0000499): An abnormality of the eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Non-midline cleft of the upper lip (HP:0100335): Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1252)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1252)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1252)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1252)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1252)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1252)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1252)