Phenotypes associated with the disease Branchioskeletogenital syndrome (ORPHA:1299):
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Abnormal midface morphology (HP:0000309): An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- 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: Very frequent (HP:0040281). (ORPHA:1299)
- 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:1299)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Periorbital wrinkles (HP:0000607). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- 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: Very frequent (HP:0040281). (ORPHA:1299)
- Abnormal sella turcica morphology (HP:0002679): Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Abnormality of the vertebral spinous processes (HP:0008516). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Large earlobe (HP:0009748): Increased volume of the earlobe, that is, abnormally prominent ear lobules. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Attached earlobe (HP:0009907): Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Abnormal dentin morphology (HP:0010299): Any abnormality of dentin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Advanced pneumatization of the mastoid process (HP:0010724): An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Blepharochalasis (HP:0010749): Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Rootless teeth (HP:0011072). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Unilateral cleft palate (HP:0100334). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1299)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- 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:1299)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- Thoracolumbar kyphoscoliosis (HP:0003423). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1299)
- Ureteral stenosis (HP:0000071): The presence of a stenotic, i.e., constricted ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1299)
- Eyelid coloboma (HP:0000625): A short discontinuity of the margin of the lower or upper eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1299)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1299)
- Absent external genitalia (HP:0000042): Lack of external genitalia in a male or female individual. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1299)
- 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:1299)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1299)
- Absent nipple (HP:0002561): Congenital failure to develop, and absence of, the nipple. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1299)
- Bladder exstrophy (HP:0002836): Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1299)
- Upper limb peromelia (HP:0009814): Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1299)
- Amelia involving the lower limbs (HP:0009818): Complete or near-complete absence of a leg. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1299)