Phenotypes associated with the disease Yunis-Varon syndrome (ORPHA:3472):
- Aplasia of distal finger phalanx (HP:0009881). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3472)
- Aplasia of the distal phalanx of the hallux (HP:0010102). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3472)
- Short proximal phalanx of hallux (HP:0010107): Underdevelopment (hypoplasia) of the proximal phalanx of big toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- Short upper lip (HP:0000188): Decreased width of the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Broad secondary alveolar ridge (HP:0000216). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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:3472)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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:3472)
- 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:3472)
- Short chin (HP:0000331): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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:3472)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- Sclerocornea (HP:0000647): A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Abnormal finger morphology (HP:0001167): An anomaly of a finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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:3472)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- Severe failure to thrive (HP:0001525). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- Arrhinencephaly (HP:0002139): A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Neuronal loss in central nervous system (HP:0002529). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Abnormal parietal bone morphology (HP:0002696): Any abnormality of the parietal bone of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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: Frequent (HP:0040282). (ORPHA:3472)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Shortening of all distal phalanges of the toes (HP:0005793): Abnormally short distal phalanx of toe of all toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Redundant neck skin (HP:0005989): Excess skin around the neck, often lying in horizontal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Premature loss of primary teeth (HP:0006323): Loss of the primary (also known as deciduous) teeth before the usual age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Absent sternal ossification (HP:0006628): Lack of formation of mineralized bony tissue of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Aplasia/Hypoplasia of the nipples (HP:0006709). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Aplasia/Hypoplasia of the clavicles (HP:0006710): Absence or underdevelopment of the clavicles (collar bones). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Hypoplasia of the frontal lobes (HP:0007333): Underdevelopment of the frontal lobe of the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Bilateral microphthalmos (HP:0007633): A developmental anomaly characterized by abnormal smallness of both eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Aplasia/Hypoplasia of the nails (HP:0008386): Aplasia or developmental hypoplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Generalized neonatal hypotonia (HP:0008935): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Absent thumb (HP:0009777): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Aplasia of the 1st metacarpal (HP:0010035): Absent first metacarpal (long bone) of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Aplasia/hypoplasia of the 1st metatarsal (HP:0010067): Absence or underdevelopment of the first metatarsal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Wide cranial sutures (HP:0010537): An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Abnormality of dental structure (HP:0011061): An abnormality of the structure or composition of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Primary microcephaly (HP:0011451): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Abnormal occipital bone morphology (HP:0012294): Abnormality of the occipital bone of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3472)
- 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:3472)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Glossoptosis (HP:0000162): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- 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:3472)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- 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:3472)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- 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:3472)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Renal artery stenosis (HP:0001920): The presence of stenosis of the renal artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Pyloric stenosis (HP:0002021): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Slender long bones with narrow diaphyses (HP:0004993): Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Aplasia/Hypoplasia of the scapulae (HP:0006713). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Increased nuchal translucency (HP:0010880): Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Narrow nasal base (HP:0012809): Decreased distance between the attachments of the alae nasi to the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Gingival recession (HP:0030816): The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Renovascular hypertension (HP:0100817): The presence of hypertension related to stenosis of the renal artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3472)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3472)