| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0002465 |
Poor speech |
— |
— |
HP:0002167 |
| HPO |
HP:0000319 |
Smooth philtrum |
"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] |
There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. |
HP:0000288 |
| HPO |
HP:0000377 |
Abnormality of the pinna |
"An abnormality of the pinna, which is also referred to as the auricle or external ear." [HPO:probinson] |
The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. |
HP:0000356 |
| HPO |
HP:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |
| HPO |
HP:0000506 |
Telecanthus |
"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO:probinson] |
Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. |
HP:0000492 |
| HPO |
HP:0000280 |
Coarse facial features |
"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." [PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0001718 |
Mitral stenosis |
"An abnormal narrowing of the orifice of the mitral valve." [DDD:dbrown] |
— |
HP:0031481 |
| HPO |
HP:0002079 |
Hypoplasia of the corpus callosum |
"Underdevelopment of the corpus callosum." [HPO:probinson, PMID:21263138] |
The corpus callosum appears thin in midline views of the brain in neuroradiological images. |
HP:0007370 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| HPO |
HP:0000307 |
Pointed chin |
"A marked tapering of the lower face to the chin." [PMID:19125436] |
The two rami of the mandible meet at an acute angle. |
HP:0000306 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"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." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0000107 |
Renal cyst |
"A fluid filled sac in the kidney." [Eurenomics:fschaefer] |
— |
HP:0012210 |
| HPO |
HP:0001274 |
Agenesis of corpus callosum |
"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
— |
HP:0007370 |
| HPO |
HP:0001763 |
Pes planus |
"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." [HPO:probinson, PMID:19125433] |
'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) |
HP:0001760 |
| HPO |
HP:0000540 |
Hypermetropia |
"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] |
The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). |
HP:0000539 |
| HPO |
HP:0012745 |
Short palpebral fissure |
"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427] |
— |
HP:0200007 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"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." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0004383 |
Hypoplastic left heart |
"Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [HPO:probinson, PMID:22192721] |
Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. |
HP:0001961, HP:0045017 |
| HPO |
HP:0002007 |
Frontal bossing |
"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436] |
This is not the same as prominent forehead. |
HP:0000290, HP:0011218 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000325 |
Triangular face |
"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0031936 |
Delayed ability to walk |
"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months." [] |
— |
HP:0002194 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0000582 |
Upslanted palpebral fissure |
"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." [PMID:19125427] |
— |
HP:0200006 |