Phenotypes associated with the disease acrofacial dysostosis Cincinnati type (OMIM:616462, an entry in Online Mendelian Inheritance in Man):
- Decreased body weight (HP:0004325, a Human Phenotype Ontology term): Abnormally low body weight. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Cavum septum pellucidum (HP:0002389, a Human Phenotype Ontology term): If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 2/2. (PMID:37075751)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/3. (PMID:25913037)
- Acetabular dysplasia (HP:0008807, a Human Phenotype Ontology term): A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Short nose (HP:0003196, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/17. (PMID:37075751)
- Infantile spasms (HP:0012469, a Human Phenotype Ontology term): Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). Evidence: PCS. Frequency: 1/18. (PMID:37075751)
- Aplastic zygomatic arch (HP:0034260, a Human Phenotype Ontology term): Developmental defect characterized by the absence of the zygomatic arch. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:37075751)
- Long palpebral fissure (HP:0000637, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Vocal cord paralysis (HP:0001605, a Human Phenotype Ontology term): A loss of the ability to move the vocal folds. Evidence: PCS. Frequency: 2/2. (PMID:37075751)
- Upper eyelid coloboma (HP:0000636, a Human Phenotype Ontology term): A short discontinuity of the margin of the upper eyelid. Evidence: PCS. Frequency: 2/4. (PMID:25913037;PMID:37075751)
- Laryngomalacia (HP:0001601, a Human Phenotype Ontology term): 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:37075751)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/17. (PMID:37075751)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 6/16. (PMID:25913037;PMID:37075751)
- Nevus (HP:0003764, a Human Phenotype Ontology term): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 2/2. (PMID:37075751)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 2/3. (PMID:25913037)
- Joint contracture (HP:0034392, a Human Phenotype Ontology term): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: PCS. Frequency: 2/16. (PMID:37075751)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Macrotia (HP:0000400, a Human Phenotype Ontology term): 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: 1/3. (PMID:25913037)
- Pterygium (HP:0001059, a Human Phenotype Ontology term): Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25913037)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: 6/17. (PMID:37075751)
- Tracheobronchomalacia (HP:0002786, a Human Phenotype Ontology term): Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Myoclonus (HP:0001336, a Human Phenotype Ontology term): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 15/20. (PMID:25913037;PMID:37075751)
- Upslanted palpebral fissure (HP:0000582, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Anomalous origin of right coronary artery from the pulmonary artery (HP:0011639, a Human Phenotype Ontology term): Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Laryngeal dystonia (HP:0012049, a Human Phenotype Ontology term): A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Broad forehead (HP:0000337, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Dandy-Walker malformation (HP:0001305, a Human Phenotype Ontology term): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Pulmonary artery aneurysm (HP:0004937, a Human Phenotype Ontology term): An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/10. (PMID:37075751)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Pulmonary artery stenosis (HP:0004415, a Human Phenotype Ontology term): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Aqueductal stenosis (HP:0002410, a Human Phenotype Ontology term): Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Developmental regression (HP:0002376, a Human Phenotype Ontology term): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 1/16. (PMID:37075751)
- Atonic seizure (HP:0010819, a Human Phenotype Ontology term): Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Biventricular hypertrophy (HP:0200128, a Human Phenotype Ontology term): Thickening of the heart walls in both ventricles. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Mild hearing impairment (HP:0012712, a Human Phenotype Ontology term): The presence of a mild form of hearing impairment. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Ablepharon (HP:0011224, a Human Phenotype Ontology term): Absent eyelids. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Gastrostomy tube feeding in infancy (HP:0011471, a Human Phenotype Ontology term): Feeding problem necessitating gastrostomy tube feeding. Evidence: PCS. Frequency: 2/2. (PMID:37075751)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): 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: 5/18. (PMID:37075751)
- Epileptic encephalopathy (HP:0200134, a Human Phenotype Ontology term): A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 9/21. (PMID:25913037;PMID:37075751)
- Aortic aneurysm (HP:0004942, a Human Phenotype Ontology term): Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Femoral bowing (HP:0002980, a Human Phenotype Ontology term): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: 5/5. (PMID:37075751)
- Syringomyelia (HP:0003396, a Human Phenotype Ontology term): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): 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: 10/17. (PMID:37075751)
- Lower limb spasticity (HP:0002061, a Human Phenotype Ontology term): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Cleft lip (HP:0410030, a Human Phenotype Ontology term): A gap in the lip or lips. Evidence: PCS. Frequency: 2/17. (PMID:37075751)
- Partial atrioventricular canal defect (HP:0011577, a Human Phenotype Ontology term): A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Abnormality of limbs (HP:0040064, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 6/17. (PMID:37075751)
- Median pseudocleft lip (HP:0034185, a Human Phenotype Ontology term): A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/17. (PMID:37075751)
- Mild global developmental delay (HP:0011342, a Human Phenotype Ontology term): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Bicuspid aortic valve (HP:0001647, a Human Phenotype Ontology term): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 9/16. (PMID:37075751)
- Single transverse palmar crease (HP:0000954, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Hypoplastic toenails (HP:0001800, a Human Phenotype Ontology term): Underdevelopment of the toenail. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): 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: 1/3. (PMID:25913037)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 0/1. (PMID:37075751)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: 6/20. (PMID:25913037;PMID:37075751)
- Choanal atresia (HP:0000453, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/3. (PMID:25913037)
- Thick eyebrow (HP:0000574, a Human Phenotype Ontology term): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 8/14. (PMID:37075751)
- Brain imaging abnormality (HP:0410263, a Human Phenotype Ontology term): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: PCS. Frequency: 5/12. (PMID:37075751)
- Abnormality of coordination (HP:0011443, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/16. (PMID:37075751)
- Flared lower limb metaphysis (HP:0030307, a Human Phenotype Ontology term): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Cleft anterior mitral valve leaflet (HP:0011569, a Human Phenotype Ontology term): Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Anotia (HP:0009892, a Human Phenotype Ontology term): Complete absence of any auricular structures. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Metopic synostosis (HP:0011330, a Human Phenotype Ontology term): Premature fusion of the metopic suture. Evidence: PCS. Frequency: 3/18. (PMID:37075751)
- Hypoplasia of the maxilla (HP:0000327, a Human Phenotype Ontology term): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Bilateral cryptorchidism (HP:0008689, a Human Phenotype Ontology term): Absence of 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: 1/1. (PMID:37075751)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 3/18. (PMID:37075751)
- Patent foramen ovale (HP:0001655, a Human Phenotype Ontology term): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 4/14. (PMID:37075751)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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: 3/14. (PMID:37075751)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: PCS. Frequency: 5/21. (PMID:25913037;PMID:37075751)
- Aspiration (HP:0002835, a Human Phenotype Ontology term): Inspiration of a foreign object into the airway. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Duane anomaly (HP:0009921, a Human Phenotype Ontology term): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Lower eyelid coloboma (HP:0000652, a Human Phenotype Ontology term): A short discontinuity of the margin of the lower eyelid. Evidence: PCS. Frequency: 1/3. (PMID:25913037)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): 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: 0/13. (PMID:37075751)
- Craniosynostosis (HP:0001363, a Human Phenotype Ontology term): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 0/15. (PMID:37075751)
- Calvarial skull defect (HP:0001362, a Human Phenotype Ontology term): A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Diaphragmatic eventration (HP:0009110, a Human Phenotype Ontology term): A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. Evidence: PCS. Frequency: 1/1. (PMID:37075751)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 2/7. (PMID:37075751)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 3/14. (PMID:37075751)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): 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: 1/1. (PMID:37075751)
- Bilateral choanal atresia (HP:0004502, a Human Phenotype Ontology term): Bilateral absence (atresia) of the posterior nasal aperture (choana). Evidence: PCS. Frequency: 1/1. (PMID:37075751)