| 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:0000377 |
Abnormality of the pinna |
"An abnormality of the pinna, which is also referred to as the auricle or external ear." [HPO:probinson] |
The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. |
HP:0000356 |
| HPO |
HP:0002948 |
Vertebral fusion |
"A developmental defect leading to the union of two adjacent vertebrae." [HPO:probinson] |
— |
HP:0003422, HP:0100240 |
| 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:0001558 |
Decreased fetal movement |
"An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
— |
HP:0001557 |
| HPO |
HP:0001762 |
Talipes equinovarus |
"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson, PMID:32491773] |
Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. |
HP:0001883 |
| HPO |
HP:0002714 |
Downturned corners of mouth |
"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, PMID:19125428] |
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). |
HP:0011338 |
| HPO |
HP:0003199 |
Decreased muscle mass |
— |
— |
HP:0011805 |
| 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:0000322 |
Short philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0002162 |
Low posterior hairline |
"Hair on the neck extends more inferiorly than usual." [PMID:19125436] |
This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. |
HP:0000464, HP:0030141 |
| 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:0000188 |
Short upper lip |
"Decreased width of the upper lip." [HPO:probinson] |
— |
HP:0000177 |
| 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:0000431 |
Wide nasal bridge |
"Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, PMID:19152422] |
Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. |
HP:0000422 |
| HPO |
HP:0001812 |
Hyperconvex fingernails |
"When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [HPO:probinson, PMID:19125433] |
— |
HP:0001795 |
| HPO |
HP:0001840 |
Metatarsus adductus |
"The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [HPO:probinson, PMID:19125433] |
Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. |
HP:0001832 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000826 |
Precocious puberty |
"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson] |
— |
HP:0100000 |
| 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:0000047 |
Hypospadias |
"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |
| HPO |
HP:0002353 |
EEG abnormality |
"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
— |
HP:0030178 |
| 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 |