| HPO |
HP:0009882 |
Short distal phalanx of finger |
"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger." [HPO:probinson, PMID:19125433] |
This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. |
HP:0009381, HP:0009803, HP:0009835 |
| 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:0001211 |
Abnormal fingertip morphology |
"An abnormal structure of the tip (end) of a finger." [] |
— |
HP:0001167 |
| HPO |
HP:0000239 |
Large fontanelles |
"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson] |
There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). |
HP:0011328 |
| HPO |
HP:0000855 |
Insulin resistance |
"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] |
— |
HP:0011014 |
| HPO |
HP:0001870 |
Acroosteolysis of distal phalanges (feet) |
— |
— |
HP:0001842, HP:0010189 |
| HPO |
HP:0001596 |
Alopecia |
"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] |
— |
HP:0011362 |
| HPO |
HP:0009064 |
Generalized lipodystrophy |
"Generalized degenerative changes of the fat tissue." [HPO:curators] |
— |
HP:0009125 |
| HPO |
HP:0003077 |
Hyperlipidemia |
"An elevated lipid concentration in the blood." [HPO:probinson] |
Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). |
HP:0003119 |
| HPO |
HP:0004334 |
Dermal atrophy |
"Partial or complete wasting (atrophy) of the skin." [HPO:probinson] |
— |
HP:0008065 |
| HPO |
HP:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |
| HPO |
HP:0000823 |
Delayed puberty |
"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] |
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. |
HP:0001510, HP:0008373 |
| HPO |
HP:0008404 |
Nail dystrophy |
"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [PMID:19675700] |
Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. |
HP:0001597 |
| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| 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:0005328 |
Progeroid facial appearance |
"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [HPO:probinson] |
— |
HP:0007495 |
| HPO |
HP:0000444 |
Convex nasal ridge |
"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [PMID:19152422] |
— |
HP:0011119 |
| HPO |
HP:0000953 |
Hyperpigmentation of the skin |
"A darkening of the skin related to an increase in melanin production and deposition." [HPO:probinson] |
— |
HP:0001000 |
| HPO |
HP:0006710 |
Aplasia/Hypoplasia of the clavicles |
"Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] |
— |
HP:0000889, HP:0006711 |
| HPO |
HP:0003761 |
Calcinosis |
"Formation of calcium deposits in any soft tissue." [HPO:probinson] |
— |
HP:0011805 |
| HPO |
HP:0000963 |
Thin skin |
"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [HPO:probinson] |
— |
HP:0008065 |
| 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:0009839 |
Osteolytic defects of the distal phalanges of the hand |
— |
— |
HP:0009771, HP:0009832 |
| HPO |
HP:0000520 |
Proptosis |
"An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, PMID:19125427] |
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. |
HP:0100886 |
| HPO |
HP:0025354 |
Abnormal cellular phenotype |
"An anomaly of cellular morphology or physiology." [] |
— |
HP:0000118 |