| 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:0001773 |
Short foot |
"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [HPO:probinson, PMID:19125433] |
— |
HP:0006494 |
| HPO |
HP:0005900 |
Fifth metacarpal with ulnar notch |
"Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)." [HPO:probinson] |
— |
HP:0010013 |
| HPO |
HP:0000343 |
Long philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0009803 |
Short phalanx of finger |
"Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [HPO:sdoelken] |
— |
HP:0009767 |
| HPO |
HP:0003510 |
Severe short stature |
"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [HPO:probinson] |
The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). |
HP:0003508 |
| HPO |
HP:0000179 |
Thick lower lip vermilion |
"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, PMID:19125428] |
Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. |
HP:0000178, HP:0012471 |
| HPO |
HP:0000160 |
Narrow mouth |
"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased 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 microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. |
HP:0011337 |
| HPO |
HP:0010049 |
Short metacarpal |
"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [PMID:19125433] |
Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. |
HP:0005914 |
| HPO |
HP:0000463 |
Anteverted nares |
"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] |
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. |
HP:0000429, HP:0005105, HP:0005288 |
| HPO |
HP:0010579 |
Cone-shaped epiphysis |
"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [HPO:probinson] |
— |
HP:0005930 |
| HPO |
HP:0001609 |
Hoarse voice |
"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [HPO:probinson] |
— |
HP:0001608 |
| HPO |
HP:0001072 |
Thickened skin |
"Laminar thickening of skin." [HPO:sdoelken] |
— |
HP:0011121 |
| HPO |
HP:0003026 |
Short long bone |
"One or more abnormally short long bone." [HPO:probinson] |
Long bones are also known as tubular bones. |
HP:0011314 |
| HPO |
HP:0004279 |
Short palm |
"Short palm." [HPO:probinson, PMID:19125433] |
This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. |
HP:0005927, HP:0100871 |
| HPO |
HP:0003300 |
Ovoid vertebral bodies |
"When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [HPO:probinson] |
— |
HP:0003312 |
| HPO |
HP:0000311 |
Round face |
"The facial appearance is more circular than usual as viewed from the front." [PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0000527 |
Long eyelashes |
"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] |
Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. |
HP:0000499 |
| HPO |
HP:0002002 |
Deep philtrum |
"Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [PMID:19152422] |
Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. |
HP:0000288 |
| HPO |
HP:0000414 |
Bulbous nose |
"Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422] |
This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. |
HP:0000436, HP:0005105 |
| OMIM |
OMIM:616914 |
MARFAN LIPODYSTROPHY SYNDROME; MFLS |
— |
— |
— |
| OMIM |
OMIM:614185 |
GELEOPHYSIC DYSPLASIA 2; GPHYSD2 |
— |
— |
— |
| OMIM |
OMIM:129600 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 |
— |
— |
— |
| OMIM |
OMIM:154700 |
MARFAN SYNDROME; MFS |
— |
— |
— |