- Submucous cleft soft palate (HP:0011819): A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- 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: IEA. Frequency: 2/9. (PMID:33875846)
- Right ventricular dilatation (HP:0005133): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 2/9. (PMID:33875846)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Malposition of the stomach (HP:0100802): Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Bifid tongue (HP:0010297): Tongue with a median apical indentation or fork. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Long palpebral fissure (HP:0000637): Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- 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: 1/9. (PMID:33875846)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Carotid artery tortuosity (HP:0005302): Abnormal tortuous (i.e., twisted) form of the carotid arteries. Evidence: PCS. Frequency: 4/12. (PMID:34010604)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 6/6. (PMID:34010605)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 7/12. (PMID:34010604)
- Prominent superficial blood vessels (HP:0007394). Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- 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: PCS. Frequency: 11/28. (PMID:34010604;PMID:33875846;PMID:34010605)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:34010605)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: PCS. Frequency: 2/9. (PMID:33875846)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 4/21. (PMID:34010604;PMID:33875846)
- 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: PCS. Frequency: 1/9. (PMID:33875846)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 7/12. (PMID:34010604)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 3/3. (PMID:34010604)
- 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: PCS. Frequency: 1/9. (PMID:33875846)
- 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: 1/9. (PMID:33875846)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 6/21. (PMID:34010604;PMID:33875846)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Arterial tortuosity (HP:0005116): Abnormal tortuous (i.e., twisted) form of arteries. Evidence: PCS. Frequency: 2/2. (PMID:34010605)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 7/7. (PMID:34010605)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 3/3. (PMID:34010604)
- Generalized joint hypermobility (HP:0002761): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: TAS. Frequency: 1/9. (OMIM:619472)
- Cleft soft palate (HP:0000185): Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Chronic gastritis (HP:0005231): A chronic form of gastritis. Evidence: PCS. Frequency: 2/12. (PMID:34010604)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 7/7. (PMID:34010605)
- Epidural hemorrhage (HP:0100310): Hemorrhage occurring between the dura mater and the skull. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Tortuous cerebral arteries (HP:0004938): Excessive bending, twisting, and winding of a cerebral artery. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Pulmonary artery aneurysm (HP:0004937): An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 2/7. (PMID:34010605)
- 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: PCS. Frequency: 7/16. (PMID:33875846;PMID:34010605)
- Fetal distress (HP:0025116): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 9/21. (PMID:34010604;PMID:33875846)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 2/9. (PMID:33875846)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 12/19. (PMID:34010604;PMID:34010605)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 12/19. (PMID:34010604;PMID:34010605)
- Atopic dermatitis (HP:0001047): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 5/28. (PMID:34010604;PMID:33875846;PMID:34010605)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 4/12. (PMID:34010604)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Coronary sinus enlargement (HP:0031298): Abnormal increase in size of the coronary sinus. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- 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: PCS. Frequency: 2/9. (PMID:33875846)
- Abnormal branching pattern of the aortic arch (HP:0011587): A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Duodenitis (HP:0033117): Inflammation of the lining of the upper small intestine (duodenum). Evidence: PCS. Frequency: 1/12. (PMID:34010604)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Left aortic arch with retroesophageal right subclavian artery (HP:0011595): Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Carotid artery dilatation (HP:0012163): A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Double outlet right ventricle (HP:0001719): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- 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: 7/19. (PMID:34010604;PMID:34010605)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 9/19. (PMID:34010604;PMID:34010605)
- Aortic tortuosity (HP:0006687): Abnormal tortuous (i.e., twisted) form of the aorta. Evidence: PCS. Frequency: 2/2. (PMID:34010605)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 8/21. (PMID:34010604;PMID:33875846)
- Recurrent joint dislocation (HP:0031869): Dislocation of a given joint repeated times. Evidence: PCS. Frequency: 7/12. (PMID:34010604)
- Broad uvula (HP:0010809): Increased width of the uvula (subjective finding). Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- 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: 13/16. (PMID:33875846;PMID:34010605)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- 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: 13/28. (PMID:34010604;PMID:33875846;PMID:34010605)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 17/19. (PMID:34010604;PMID:34010605)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- 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: PCS. Frequency: 5/16. (PMID:33875846;PMID:34010605)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 6/7. (PMID:34010605)
- 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: PCS. Frequency: 5/7. (PMID:34010605)
- 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: PCS. Frequency: 9/19. (PMID:34010604;PMID:34010605)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 26/37. (PMID:34010604;PMID:33875846;PMID:34010605)
- 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: 2/9. (PMID:33875846)
- 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: 3/7. (PMID:34010605)
- 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: 7/12. (PMID:34010604)
- 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: 6/9. Onset: Adult onset (HP:0003581). (PMID:33875846)
- Long toe (HP:0010511): Toes that appear disproportionately long compared to the foot. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- 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: 18/28. (PMID:34010604;PMID:33875846;PMID:34010605)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 3/12. (PMID:34010604)
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 2/12. (PMID:34010604)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 6/19. (PMID:34010604;PMID:34010605)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Contracture of the proximal interphalangeal joint of the 2nd toe (HP:0100348): The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. Evidence: PCS. Frequency: 1/7. (PMID:34010605)
- Severely increased total eosinophil count (HP:0032061): Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre. Evidence: PCS. Frequency: 4/5. (PMID:34010604)
- 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: PCS. Frequency: 9/28. (PMID:34010604;PMID:33875846;PMID:34010605)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 5/9. (PMID:33875846)
- Iliac artery aneurysm (HP:4000067): Abnormal outpouching or sac-like dilatation in the iliac artery. Evidence: PCS. Frequency: 2/12. (PMID:34010604)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Exostosis of the external auditory canal (HP:0004459): A benign bony growth projecting outward from a bone surface within the external auditory canal. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Drug allergy (HP:0410323): Hypersensitivity in form of an adverse immune reaction against drugs. Evidence: PCS. Frequency: 1/12. (PMID:34010604)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 3/16. (PMID:33875846;PMID:34010605)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: PCS. Frequency: 2/12. (PMID:34010604)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/9. (PMID:33875846)
- 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: PCS. Frequency: 5/7. (PMID:34010605)
- 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: PCS. Frequency: 9/28. (PMID:34010604;PMID:33875846;PMID:34010605)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 3/21. (PMID:34010604;PMID:33875846)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 3/4. (PMID:34010604)
- 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: PCS. Frequency: 2/9. (PMID:33875846)
These phenotypes are associated with the disease VISS syndrome (OMIM:619472).