| 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:0001841 |
Preaxial foot polydactyly |
"Duplication of all or part of the first ray." [HPO:probinson, PMID:19125433] |
This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. |
HP:0001829, HP:0001844, HP:0100258 |
| HPO |
HP:0001385 |
Hip dysplasia |
"The presence of developmental dysplasia of the hip." [HPO:probinson] |
— |
HP:0003272 |
| HPO |
HP:0002389 |
Cavum septum pellucidum |
"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." [HPO:curators] |
— |
HP:0007375 |
| HPO |
HP:0001518 |
Small for gestational age |
"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] |
— |
HP:0004325 |
| HPO |
HP:0002553 |
Highly arched eyebrow |
"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [PMID:19125427] |
Most eyebrows have some arch with downturning medially and laterally. |
HP:0000534 |
| HPO |
HP:0009918 |
Ectopia pupillae |
"A malposition of the pupil owing to a developmental defect of the iris." [DDD:gblack, HPO:probinson] |
— |
HP:0000615 |
| HPO |
HP:0000286 |
Epicanthus |
"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." [HPO:probinson] |
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. |
HP:0000492 |
| HPO |
HP:0000902 |
Rib fusion |
"Complete or partial merging of adjacent ribs." [HPO:probinson] |
— |
HP:0000772 |
| HPO |
HP:0003745 |
Sporadic |
"Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0004484 |
Craniofacial asymmetry |
"Asymmetry of the bones of the skull and the face." [HPO:curators] |
— |
HP:0000267, HP:0000324, HP:0011821 |
| HPO |
HP:0002808 |
Kyphosis |
"Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] |
— |
HP:0010674 |
| 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:0001508 |
Failure to thrive |
"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] |
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). |
HP:0004325 |
| HPO |
HP:0010109 |
Short hallux |
"Underdevelopment (hypoplasia) of the big toe." [HPO:probinson] |
— |
HP:0001831, HP:0008362 |
| 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:0001629 |
Ventricular septal defect |
"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:probinson, PMID:33327983] |
— |
HP:0010438 |
| 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:0001631 |
Atrial septal defect |
"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] |
— |
HP:0005120, HP:0011994 |
| HPO |
HP:0009778 |
Short thumb |
"Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson] |
— |
HP:0009381, HP:0009601 |
| HPO |
HP:0000405 |
Conductive hearing impairment |
"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] |
A conductive hearing impariment with greater than 90 dB loss. |
HP:0000365, HP:0011452 |
| HPO |
HP:0000668 |
Hypodontia |
"The absence of five or less teeth from the normal series by a failure to develop." [HPO:ibailleulforestier, PMID:31468724] |
Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. |
HP:0009804 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0000151 |
Aplasia of the uterus |
"Aplasia of the uterus." [HPO:probinson] |
— |
HP:0008684 |
| HPO |
HP:0000238 |
Hydrocephalus |
"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." [HPO:probinson, PMID:18211712, PMID:19410151] |
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. |
HP:0002118, HP:0002921 |