- 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:672)
- 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:672)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Rib fusion (HP:0000902): Complete or partial merging of adjacent ribs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- 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: Frequent (HP:0040282). (ORPHA:672)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Toe syndactyly (HP:0001770): Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Radial head subluxation (HP:0003048): Partial dislocation of the head of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- 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: Frequent (HP:0040282). (ORPHA:672)
- 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:672)
- Supernumerary metacarpal bones (HP:0005917): The presence of more than the normal number of metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Bilateral postaxial polydactyly (HP:0006136). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Gonadotropin deficiency (HP:0008213): A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Secondary growth hormone deficiency (HP:0008240). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Pituitary hypothyroidism (HP:0008245): A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Laryngeal cleft (HP:0008751): Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Polydactyly affecting the 3rd finger (HP:0009958). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Polydactyly affecting the 4th finger (HP:0009971). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Central adrenal insufficiency (HP:0011734): A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Adrenocorticotropic hormone deficiency (HP:0011748): A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- 3-4 finger cutaneous syndactyly (HP:0011939): A soft tissue continuity in the A/P axis between fingers 3 and 4. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Abnormal basal ganglia MRI signal intensity (HP:0012751): A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Hypopituitarism (HP:0040075). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Abnormal prolactin level (HP:0040086). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Mesoaxial polydactyly (HP:0100260): The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Recurrent upper and lower respiratory tract infections (HP:0200117): Increased susceptibility to upper and lower respiratory tract infections as manifested by recurrent episodes of upper and lower respiratory tract infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- 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:672)
- 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:672)
- 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: Occasional (HP:0040283). (ORPHA:672)
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- 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:672)
- Facial grimacing (HP:0000273). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Paroxysmal bursts of laughter (HP:0000749). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Panhypopituitarism (HP:0000871): A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- 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:672)
- Abnormal corpus callosum morphology (HP:0001273): Abnormality of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- 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:672)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Large for gestational age (HP:0001520): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- 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: Occasional (HP:0040283). (ORPHA:672)
- 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: Occasional (HP:0040283). (ORPHA:672)
- 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:672)
- 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:672)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Broad toe (HP:0001837): Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Midline facial capillary hemangioma (HP:0007601). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Primary adrenal insufficiency (HP:0008207): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Bifid epiglottis (HP:0010564): A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Focal emotional seizure with laughing (HP:0010821): Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Oligodactyly (HP:0012165): A developmental defect resulting in the presence of fewer than the normal number of digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Auricular tag (HP:0030021): Small protrusion within the pinna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:672)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Trigonocephaly (HP:0000243): Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- 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 rare (HP:0040284). (ORPHA:672)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- 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: Very rare (HP:0040284). (ORPHA:672)
- Distal arthrogryposis (HP:0005684): An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Aplasia/hypoplasia of the uterus (HP:0008684): Absence or developmental hypoplasia of the uterus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Bilateral renal agenesis (HP:0010958): A bilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Aplasia/Hypoplasia of the vagina (HP:0011026): Aplasia or developmental hypoplasia of the vagina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Hydrometrocolpos (HP:0030010): Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Osteochondroma (HP:0030431): A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Scaphocephaly (HP:0030799): Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:672)
- Hypothalamic hamartoma (HP:0002444): The presence of a hamartoma of the hypothalamus. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:672)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- 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: Frequent (HP:0040282). (ORPHA:672)
- 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:672)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:672)
- 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:672)
These phenotypes are associated with the disease Pallister-Hall syndrome (ORPHA:672).