| HPO |
HP:0000558 |
Rieger anomaly |
"A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [HPO:probinson] |
Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. |
HP:0007676 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0002721 |
Immunodeficiency |
"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] |
— |
HP:0010978 |
| HPO |
HP:0009193 |
Pseudoepiphyses of the metacarpals |
"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [HPO:doelkens] |
— |
HP:0004288, HP:0005913 |
| HPO |
HP:0001274 |
Agenesis of corpus callosum |
"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
— |
HP:0007370 |
| HPO |
HP:0002144 |
Tethered cord |
"During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] |
— |
HP:0031938 |
| HPO |
HP:0001028 |
Hemangioma |
"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson] |
— |
HP:0100742 |
| HPO |
HP:0000612 |
Iris coloboma |
"A coloboma of the iris." [HPO:probinson, PMID:19369671] |
— |
HP:0000525, HP:0000589 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0001171 |
Split hand |
"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands." [HPO:sdoelken] |
— |
HP:0001155, HP:0100257 |
| HPO |
HP:0000204 |
Cleft upper lip |
"A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
— |
HP:0000177, HP:0410030 |
| HPO |
HP:0001080 |
Biliary tract abnormality |
"An abnormality of the biliary tree." [HPO:probinson] |
— |
HP:0004297 |
| HPO |
HP:0000465 |
Webbed neck |
"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [HPO:probinson, PMID:24523736] |
— |
HP:0000464 |
| HPO |
HP:0003312 |
Abnormal form of the vertebral bodies |
"Abnormal morphology of vertebral body." [] |
— |
HP:0003468 |
| HPO |
HP:0010864 |
Intellectual disability, severe |
"Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. |
HP:0001249 |
| HPO |
HP:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0000960 |
Sacral dimple |
"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [HPO:probinson, PMID:28245993] |
— |
HP:0010767, HP:0010781 |
| 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:0008850 |
Severe postnatal growth retardation |
"Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [DDD:hfirth] |
— |
HP:0008897 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| HPO |
HP:0000348 |
High forehead |
"An abnormally increased height of the forehead." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0000384 |
Preauricular skin tag |
"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [HPO:probinson] |
— |
HP:0000383, HP:0010609 |
| HPO |
HP:0004467 |
Preauricular pit |
"Small indentation anterior to the insertion of the ear." [HPO:sdoelken, PMID:19152421] |
Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. |
HP:0100277 |
| 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:0000402 |
Stenosis of the external auditory canal |
"An abnormal narrowing of the external auditory canal." [HPO:probinson] |
— |
HP:0000372 |