Phenotypes associated with the disease Distal deletion 10q syndrome (ORPHA:96148):
- 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:96148)
- 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:96148)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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:96148)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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: Occasional (HP:0040283). (ORPHA:96148)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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: Occasional (HP:0040283). (ORPHA:96148)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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:96148)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Facial diplegia (HP:0001349): Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Clonus (HP:0002169): A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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: Very frequent (HP:0040281). (ORPHA:96148)
- 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: Very frequent (HP:0040281). (ORPHA:96148)
- 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: Very frequent (HP:0040281). (ORPHA:96148)
- 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 frequent (HP:0040281). (ORPHA:96148)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96148)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- 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:96148)
- 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: Frequent (HP:0040282). (ORPHA:96148)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96148)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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: Occasional (HP:0040283). (ORPHA:96148)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Cavum septum pellucidum (HP:0002389): If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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:96148)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 2-3 toe cutaneous syndactyly (HP:0005709). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Lateral ventricle dilatation (HP:0006956). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Poor fine motor coordination (HP:0007010): An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Inferior cerebellar vermis hypoplasia (HP:0007068): Underdevelopment of the inferior portion of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Pes valgus (HP:0008081): An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Congenital sensorineural hearing impairment (HP:0008527): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96148)
- 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: Occasional (HP:0040283). (ORPHA:96148)
- Functional abnormality of the bladder (HP:0000009): Dysfunction of the urinary bladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- 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 rare (HP:0040284). (ORPHA:96148)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Widow's peak (HP:0000349): Frontal hairline with bilateral arcs to a low point in the midline of the forehead. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- 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 rare (HP:0040284). (ORPHA:96148)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- 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 rare (HP:0040284). (ORPHA:96148)
- Prominent fingertip pads (HP:0001212): A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- 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: Very rare (HP:0040284). (ORPHA:96148)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Prominent metopic ridge (HP:0005487): Vertical bony ridge positioned in the midline of the forehead. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Cochlear malformation (HP:0008554): The presence of a malformed cochlea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)
- Abnormal morphology of the vestibule of the inner ear (HP:0011376): A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96148)