Phenotypes associated with the disease Tetrasomy 9p syndrome (ORPHA:3310):
- Median cleft palate (HP:0009099): Cleft palate of the midline of the palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- 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: Frequent (HP:0040282). (ORPHA:3310)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- Abnormal earlobe morphology (HP:0000363): An abnormality of the lobule of pinna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- 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: Frequent (HP:0040282). (ORPHA:3310)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- 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:3310)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- 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:3310)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- 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: Frequent (HP:0040282). (ORPHA:3310)
- Pilomatrixoma (HP:0030434): Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3310)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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:3310)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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:3310)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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: Occasional (HP:0040283). (ORPHA:3310)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Abnormal chorioretinal morphology (HP:0000532): An abnormality of the choroid and retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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:3310)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Pachygyria (HP:0001302): Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Dandy-Walker malformation (HP:0001305): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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:3310)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Abnormal mitral valve morphology (HP:0001633): Any structural anomaly of the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Abnormal cardiac septum morphology (HP:0001671): An anomaly of the intra-atrial or intraventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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: Occasional (HP:0040283). (ORPHA:3310)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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: Occasional (HP:0040283). (ORPHA:3310)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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: Occasional (HP:0040283). (ORPHA:3310)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Biliary atresia (HP:0005912): Atresia of the biliary tree. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Aplasia/Hypoplasia of the clavicles (HP:0006710): Absence or underdevelopment of the clavicles (collar bones). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Bilateral single transverse palmar creases (HP:0007598): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Abnormal number of permanent teeth (HP:0011044): The presence of an altered number of of permanent teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Small toe (HP:0030031): Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Glue ear (HP:0040262): Middle ear is filled with glue-like fluid instead of air. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3310)
- 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 rare (HP:0040284). (ORPHA:3310)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- 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: Very rare (HP:0040284). (ORPHA:3310)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Inappropriate behavior (HP:0000719): An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Lissencephaly (HP:0001339): A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- 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:3310)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- Juxtaductal coarctation of the aorta (HP:0011646): Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3310)
- 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 rare (HP:0040284). (ORPHA:3310)