Phenotypes associated with the disease tetrasomy 12p (OMIM:601803):
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: IEA. (OMIM:601803)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:601803)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 18/24. (PMID:25888713;PMID:32714624)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: PCS. Frequency: 4/13. (PMID:25888713)
- Tethered cord (HP:0002144): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: PCS. Frequency: 1/1. (PMID:33269168)
- 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: PCS. Frequency: 2/2. (PMID:32714624)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:601803)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 5/22. (PMID:25888713)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 2/8. (PMID:25888713)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: IEA. (OMIM:601803)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: PCS. Frequency: 1/1. (PMID:32482921)
- 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: PCS. Frequency: 1/2. (PMID:32714624)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 14/22. (PMID:25888713)
- Mesomelic/rhizomelic limb shortening (HP:0005026). Evidence: PCS. Frequency: 5/21. (PMID:25888713)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: PCS. Frequency: 1/1. (PMID:32482921)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 3/22. (PMID:25888713)
- 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: PCS. Frequency: 4/21. (PMID:25888713)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: IEA. (OMIM:601803)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. (OMIM:601803)
- 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: PCS. Frequency: 1/2. (PMID:32714624)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: IEA. (OMIM:601803)
- Weak cry (HP:0001612). Evidence: PCS. Frequency: 1/1. (PMID:32482921)
- Camptodactyly of 2nd-5th fingers (HP:0001215): The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: IEA. (OMIM:601803)
- Hyperventilation (HP:0002883): Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. Evidence: TAS. (OMIM:601803)
- Labial hypoplasia (HP:0000066). Evidence: PCS. Frequency: 1/1. (PMID:19215037)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:32482921;PMID:19215037)
- 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: PCS. Frequency: 1/2. (PMID:32714624)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 3/3. (PMID:32714624;PMID:19215037)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:601803)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. (OMIM:601803)
- 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: PCS. Frequency: 1/2. (PMID:32714624)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 2/3. (PMID:33269168;PMID:32714624)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- 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: IEA. (OMIM:601803)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 3/14. (PMID:25888713)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: IEA. (OMIM:601803)
- Premature rupture of membranes (HP:0001788): Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: IEA. (OMIM:601803)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: IEA. (OMIM:601803)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 4/16. Onset: Fetal onset (HP:0011461). (PMID:25888713)
- Short palm (HP:0004279): Short palm. Evidence: PCS. Frequency: 12/21. (PMID:25888713)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: IEA. (OMIM:601803)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. (PMID:25888713)
- 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: IEA. (OMIM:601803)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: IEA. (OMIM:601803)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: IEA. (OMIM:601803)
- Secondary microcephaly (HP:0005484): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: IEA. (OMIM:601803)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:601803)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Nasogastric tube feeding (HP:0040288): The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. Evidence: PCS. Frequency: 1/1. (PMID:32482921)
- Periorbital fullness (HP:0000629): Increase in periorbital soft tissue. Evidence: PCS. Frequency: 1/1. (PMID:19215037)
- 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: PCS. Frequency: 6/22. (PMID:25888713;PMID:19215037)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: IEA. (OMIM:601803)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:33269168)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 17/22. (PMID:25888713)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: IEA. (OMIM:601803)
- Hypopigmented streaks (HP:0007535). Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: IEA. (OMIM:601803)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: IEA. (OMIM:601803)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: IEA. (OMIM:601803)
- 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: PCS. Frequency: 1/2. (PMID:32714624)
- Congenital hip dislocation (HP:0001374). Evidence: IEA. (OMIM:601803)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 2/3. (PMID:32482921;PMID:32714624)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: PCS. Frequency: 12/22. (PMID:25888713)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: PCS. Frequency: 6/22. (PMID:25888713)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 13/22. (PMID:25888713;PMID:19215037)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. (OMIM:601803)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 3/22. (PMID:25888713)
- 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: PCS. Frequency: 17/23. (PMID:25888713;PMID:32482921)
- Profound intellectual disability (HP:0002187): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: IEA. Frequency: 16/22. (OMIM:601803)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 4/24. (PMID:25888713;PMID:33269168;PMID:32482921;PMID:19215037)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:601803)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 3/3. (PMID:32714624;PMID:19215037)
- Aplasia of the upper vagina (HP:0012673): A failure to develop of the upper vagina. Evidence: TAS. (OMIM:601803)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 2/3. (PMID:32714624;PMID:32482921)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/1. (PMID:33269168)
- 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: PCS. Frequency: 3/3. (PMID:33269168;PMID:32714624)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 12/24. (PMID:25888713;PMID:32714624;PMID:19215037)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: IEA. (OMIM:601803)
- Broad foot (HP:0001769): A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. Evidence: IEA. (OMIM:601803)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: IEA. (OMIM:601803)
- 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: IEA. (OMIM:601803)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 2/2. (PMID:32714624)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 6/22. (PMID:25888713)
- 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: PCS. Frequency: 3/23. (PMID:25888713;PMID:19215037)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. (OMIM:601803)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 16/23. (PMID:25888713;PMID:32482921)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- 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: PCS. Frequency: 1/1. (PMID:19215037)
- 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: PCS. Frequency: 5/22. (PMID:25888713)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: IEA. (OMIM:601803)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. (OMIM:601803)
- 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: IEA. (OMIM:601803)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: PCS. Frequency: 1/1. (PMID:33269168)
- Sparse anterior scalp hair (HP:0004768): Decreased number of head hairs per unit area on the anterior region of the scalp. Evidence: IEA. (OMIM:601803)
- 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: PCS. Frequency: 20/22. Onset: Neonatal onset (HP:0003623). (PMID:25888713)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 2/22. (PMID:25888713)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Alveolar ridge overgrowth (HP:0009085): Increased width of the alveolar ridges. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- 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: IEA. (OMIM:601803)
- Edema of the dorsum of feet (HP:0012098): An abnormal accumulation of fluid beneath the skin on the back of the feet. Evidence: PCS. Frequency: 1/1. (PMID:19215037)
- Apneic episodes in infancy (HP:0005949): Recurrent episodes of apnea occurring during infancy. Evidence: PCS. Frequency: 1/1. (PMID:32482921)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: IEA. (OMIM:601803)
- 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: PCS. Frequency: 11/12. (PMID:32714624;OMIM:601803)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: PCS. Frequency: 10/22. (PMID:25888713;PMID:19215037)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: IEA. (OMIM:601803)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:601803)
- Delayed ability to roll over (HP:0032989): Delayed achievement of the ability to roll front to back and back to front. Evidence: PCS. Frequency: 1/1. (PMID:19215037)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: PCS. Frequency: 1/2. (PMID:32714624)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 2/3. (PMID:32714624;PMID:19215037)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 11/12. (PMID:32714624;OMIM:601803)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: PCS. Frequency: 12/19. Onset: Infantile onset (HP:0003593). (PMID:25888713)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: IEA. (OMIM:601803)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/2. (PMID:32714624)
- Persistent head lag (HP:0032988): The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. Evidence: PCS. Frequency: 3/4. (PMID:32482921;PMID:32714624;PMID:19215037)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: IEA. (OMIM:601803)
- Hyperpigmented streaks (HP:0007572). Evidence: IEA. (OMIM:601803)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 2/3. (PMID:32482921;PMID:32714624)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: PCS. Frequency: 1/1. (PMID:19215037)
- 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: IEA. (OMIM:601803)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/3. (PMID:32714624;PMID:19215037)
- 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: PCS. Frequency: 5/15. (PMID:25888713;PMID:32714624)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:601803)
- 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. (OMIM:601803)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: IEA. (OMIM:601803)