| HPO |
HP:0001473 |
Metatarsal osteolysis |
"Osteolysis involving metatarsal bones." [HPO:probinson] |
— |
HP:0001832, HP:0009134 |
| HPO |
HP:0001474 |
Sclerotic scapulae |
"Increased density of the bony tissue of the scapula." [HPO:probinson] |
— |
HP:0000782, HP:0011001 |
| HPO |
HP:0001475 |
Male-limited autosomal dominant |
— |
— |
HP:0001470 |
| HPO |
HP:0001476 |
Delayed closure of the anterior fontanelle |
"A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] |
— |
HP:0000236, HP:0000270 |
| HPO |
HP:0001477 |
Compensatory chin elevation |
"A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [HPO:probinson] |
— |
HP:0031705 |
| HPO |
HP:0001480 |
Freckling |
"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] |
— |
HP:0001000 |
| HPO |
HP:0001482 |
Subcutaneous nodule |
"Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson] |
Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. |
HP:0200036 |
| HPO |
HP:0001483 |
Eye poking |
"Repetitive pressing, poking, and/or rubbing in the eyes." [HPO:probinson, PMID:8881355] |
Eye poking is usually observed in children with an intellectual and visual handicap. |
HP:0000733 |
| HPO |
HP:0001487 |
obsolete Hypopigmented fundi |
— |
— |
— |
| HPO |
HP:0001488 |
Bilateral ptosis |
— |
— |
HP:0000508 |
| HPO |
HP:0001489 |
Posterior vitreous detachment |
"Separation of the vitreous humor from the retina." [HPO:probinson, PMID:24376338] |
The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. |
HP:0004327 |
| HPO |
HP:0001491 |
Congenital fibrosis of extraocular muscles |
"Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [HPO:probinson] |
— |
HP:0008049 |
| HPO |
HP:0001492 |
Axenfeld anomaly |
"Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [HPO:probinson] |
— |
HP:0007700 |
| HPO |
HP:0001493 |
Falciform retinal fold |
"An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [HPO:probinson] |
— |
HP:0008052 |
| HPO |
HP:0001495 |
Carpal osteolysis |
"Osteolysis affecting carpal bones." [HPO:probinson] |
— |
HP:0001191, HP:0045039 |
| HPO |
HP:0001498 |
Carpal bone hypoplasia |
"Underdevelopment of one or more carpal bones." [HPO:probinson] |
— |
HP:0006502 |
| HPO |
HP:0001500 |
Broad finger |
"Increased width of a non-thumb digit of the hand." [PMID:19125433] |
Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". |
HP:0001167 |
| HPO |
HP:0001501 |
6 metacarpals |
— |
— |
HP:0005917 |
| HPO |
HP:0001504 |
Metacarpal osteolysis |
— |
— |
HP:0001163, HP:0045039 |
| HPO |
HP:0001507 |
Growth abnormality |
— |
— |
HP:0000118 |
| 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:0001510 |
Growth delay |
"A deficiency or slowing down of growth pre- and postnatally." [HPO:probinson] |
Poor or abnormally slow gains in weight or height in a child. |
HP:0001507 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0001513 |
Obesity |
"Accumulation of substantial excess body fat." [] |
— |
HP:0004324 |
| 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 |