| 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:0000400 |
Macrotia |
"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)." [PMID:19152421] |
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. |
HP:0000377 |
| HPO |
HP:0001156 |
Brachydactyly |
"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [HPO:probinson] |
— |
HP:0011927 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0030260 |
Microphallus |
"Length of penis more than 2 SD below the mean for age accompanied by hypospadias." [HPO:probinson, PMID:23650202] |
Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. |
HP:0008736 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0002589 |
Gastrointestinal atresia |
— |
— |
HP:0012718 |
| HPO |
HP:0004322 |
Short stature |
"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)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0000378 |
Cupped ear |
"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, PMID:19162421, PMID:22073081] |
— |
HP:0000377 |
| HPO |
HP:0009890 |
High anterior hairline |
"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [PMID:19125436] |
This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. |
HP:0000599 |
| HPO |
HP:0010747 |
Medial flaring of the eyebrow |
"An abnormal distribution of eyebrow hair growth in the medial direction." [HPO:probinson] |
— |
HP:0000534 |
| HPO |
HP:0000028 |
Cryptorchidism |
"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." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0000275 |
Narrow face |
"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] |
Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. |
HP:0000274 |
| HPO |
HP:0000356 |
Abnormality of the outer ear |
"An abnormality of the external ear." [HPO:probinson] |
— |
HP:0031703 |
| HPO |
HP:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0000954 |
Single transverse palmar crease |
"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, PMID:19125433] |
The presence of a single palmar crease (instead of the two palmar creases that are typically present). |
HP:0010490 |
| HPO |
HP:0000490 |
Deeply set eye |
"An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427] |
This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. |
HP:0100886 |
| HPO |
HP:0030680 |
Abnormality of cardiovascular system morphology |
"Any structural anomaly of the heart and great vessels." [] |
— |
HP:0001626 |
| HPO |
HP:0000047 |
Hypospadias |
"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." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| HPO |
HP:0000824 |
Decreased response to growth hormone stimulation test |
"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [HPO:probinson, PMID:25914878] |
GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. |
HP:0000830, HP:0032367 |
| HPO |
HP:0000445 |
Wide nose |
"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422] |
— |
HP:0005105 |
| HPO |
HP:0002376 |
Developmental regression |
"Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] |
Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. |
HP:0012759 |
| HPO |
HP:0002705 |
High, narrow palate |
"The presence of a high and narrow palate." [HPO:curators] |
— |
HP:0000189, HP:0000218 |
| HPO |
HP:0000717 |
Autism |
"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DDD:hvfirth] |
The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. |
HP:0000729 |
| HPO |
HP:0000023 |
Inguinal hernia |
"Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] |
Inguinal hernia appears as a bulge in the groin. |
HP:0004299 |