| HPO |
HP:0011803 |
Bifid nose |
"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [PMID:19152422] |
This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. |
HP:0004122 |
| HPO |
HP:0001159 |
Syndactyly |
"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\"." [HPO:probinson] |
Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. |
HP:0011297 |
| HPO |
HP:0002190 |
Choroid plexus cyst |
"A cyst occurring within the choroid plexus within a cerebral ventricle." [HPO:probinson] |
Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. |
HP:0007376 |
| 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:0012032 |
Lipoma |
"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] |
— |
HP:0012031 |
| HPO |
HP:0002781 |
Upper airway obstruction |
"Increased resistance to the passage of air in the upper airway." [HPO:probinson] |
— |
HP:0006536 |
| HPO |
HP:0002690 |
Large sella turcica |
"An abnormal enlargement of the sella turcica." [HPO:probinson] |
— |
HP:0002679 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |
| 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:0040075 |
Hypopituitarism |
— |
— |
HP:0011747 |
| 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: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:0000508 |
Ptosis |
"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)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0000248 |
Brachycephaly |
"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." [HPO:probinson, PMID:19125436] |
Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. |
HP:0002648 |
| HPO |
HP:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |
| HPO |
HP:0010559 |
Vertical clivus |
"An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators] |
— |
HP:0010558 |
| 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:0010442 |
Polydactyly |
"A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson] |
— |
HP:0011297 |
| HPO |
HP:0011803 |
Bifid nose |
"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [PMID:19152422] |
This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. |
HP:0004122 |
| HPO |
HP:0002084 |
Encephalocele |
"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson] |
A congenital gap in the skull that usually results in a protrusion of brain material. |
HP:0002011, HP:0011815 |
| HPO |
HP:0008388 |
Abnormal toenail morphology |
"An anomaly of the toenail." [HPO:probinson] |
— |
HP:0001597 |
| HPO |
HP:0009099 |
Median cleft palate |
"Cleft palate of the midline of the palate." [HPO:probinson] |
— |
HP:0000175 |
| HPO |
HP:0010627 |
Anterior pituitary hypoplasia |
"Underdevelopment of the anterior pituitary gland." [DDD:spark, HPO:probinson] |
— |
HP:0010625 |
| HPO |
HP:0002056 |
Abnormality of the glabella |
"An abnormality of the glabella." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0000154 |
Wide mouth |
"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] |
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. |
HP:0011337 |