Phenotypes associated with the disease Ear-patella-short stature syndrome (ORPHA:2554):
- 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: Very frequent (HP:0040281). (ORPHA:2554)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Anotia (HP:0009892): Complete absence of any auricular structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Mandibular aplasia (HP:0009939): Absence of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Microtia, third degree (HP:0011267): Presence of some auricular structures, but none of these structures conform to recognized ear components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2554)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Clitoral hypoplasia (HP:0000060): Developmental hypoplasia of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Hypoplastic labia minora (HP:0000064). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- 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: Frequent (HP:0040282). (ORPHA:2554)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- 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:2554)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- 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:2554)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2554)
- Epispadias (HP:0000039): Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- 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: Occasional (HP:0040283). (ORPHA:2554)
- 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: Occasional (HP:0040283). (ORPHA:2554)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- 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: Occasional (HP:0040283). (ORPHA:2554)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- 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: Occasional (HP:0040283). (ORPHA:2554)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- Breast aplasia (HP:0100783): Failure to develop and congenital absence of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2554)
- 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: Very frequent (HP:0040281). (ORPHA:2554)