| 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:0000175 |
Cleft palate |
"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)." [HPO:probinson] |
Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. |
HP:0000202, HP:0100737 |
| HPO |
HP:0010459 |
True hermaphroditism |
"The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [HPO:curators] |
— |
HP:0000062 |
| HPO |
HP:0000368 |
Low-set, posteriorly rotated ears |
"Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)." [HPO:probinson] |
This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. |
HP:0000358, HP:0000369 |
| HPO |
HP:0000532 |
Abnormal chorioretinal morphology |
"An abnormality of the choroid and retina." [HPO:probinson] |
The choroid is the vascular layer of the eye, located between the retina and the sclera. |
HP:0000479, HP:0000610 |
| HPO |
HP:0000457 |
Depressed nasal ridge |
"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [HPO:probinson, PMID:19152422] |
The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. |
HP:0011119 |
| HPO |
HP:0000518 |
Cataract |
"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] |
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). |
HP:0000517 |
| HPO |
HP:0006487 |
Bowing of the long bones |
"A bending or abnormal curvature of a long bone." [HPO:probinson] |
Curvatures of a long bone such as femur, tibia, or fibula. |
HP:0000940 |
| 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:0001747 |
Accessory spleen |
"An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson] |
— |
HP:0009799 |
| HPO |
HP:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0000037 |
Male pseudohermaphroditism |
"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
— |
HP:0000032 |
| HPO |
HP:0000647 |
Sclerocornea |
"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [HPO:probinson] |
— |
HP:0007957 |
| HPO |
HP:0000073 |
Ureteral duplication |
"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] |
— |
HP:0025633 |
| HPO |
HP:0000648 |
Optic atrophy |
"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] |
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. |
HP:0012795 |
| HPO |
HP:0000068 |
Urethral atresia |
"Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson] |
— |
HP:0000795 |
| HPO |
HP:0000293 |
Full cheeks |
"Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] |
— |
HP:0004426 |
| HPO |
HP:0001177 |
Preaxial hand polydactyly |
"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] |
— |
HP:0001161, HP:0001172, HP:0100258 |
| HPO |
HP:0010295 |
Aplasia/Hypoplasia of the tongue |
"Absence or underdevelopment of the tongue." [HPO:curators] |
— |
HP:0030809 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0007370 |
Aplasia/Hypoplasia of the corpus callosum |
"Absence or underdevelopment of the corpus callosum." [HPO:probinson] |
— |
HP:0007364, HP:0033725 |
| HPO |
HP:0002612 |
Congenital hepatic fibrosis |
"The presence of fibrosis of that part of the liver with congenital onset." [HPO:probinson] |
Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). |
HP:0001395 |
| HPO |
HP:0001562 |
Oligohydramnios |
"Diminished amniotic fluid volume in pregnancy." [HPO:probinson] |
Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. |
HP:0001560 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0001696 |
Situs inversus totalis |
"A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson] |
— |
HP:0001651, HP:0011534 |