Phenotypes associated with the disease Isolated cleft lip (ORPHA:199302):
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199302)
- 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:199302)
- Velopharyngeal insufficiency (HP:0000220): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Macrodontia (HP:0001572): Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Supernumerary maxillary incisor (HP:0006332): The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Speech articulation difficulties (HP:0009088): Impairment in the physical production of speech sounds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Maternal teratogenic exposure (HP:0011438): A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Low self-esteem (HP:0031469): Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Abnormal Eustachian tube morphology (HP:0040115): A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Bilateral cleft lip (HP:0100336): A non-midline cleft of the upper lip on the left and right sides. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199302)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199302)