From HPO
Single transverse palmar crease- MedGen UID:
- 96108
- •Concept ID:
- C0424731
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
2-3 toe syndactyly- MedGen UID:
- 1645640
- •Concept ID:
- C4551570
- •
- Congenital Abnormality
Syndactyly with fusion of toes two and three.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, severe- MedGen UID:
- 48638
- •Concept ID:
- C0036857
- •
- Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Motor stereotypies- MedGen UID:
- 21318
- •Concept ID:
- C0038271
- •
- Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Epileptic encephalopathy- MedGen UID:
- 452596
- •Concept ID:
- C0543888
- •
- Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Abnormal cerebral white matter morphology- MedGen UID:
- 181756
- •Concept ID:
- C0948163
- •
- Pathologic Function
An abnormality of the cerebral white matter.
Reduced eye contact- MedGen UID:
- 303190
- •Concept ID:
- C1445953
- •
- Finding
A reduced frequency or duration of eye contact.
Dilated fourth ventricle- MedGen UID:
- 376050
- •Concept ID:
- C1847117
- •
- Finding
An abnormal dilatation of the fourth cerebral ventricle.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Absent speech- MedGen UID:
- 340737
- •Concept ID:
- C1854882
- •
- Finding
Complete lack of development of speech and language abilities.
Lateral ventricle dilatation- MedGen UID:
- 383904
- •Concept ID:
- C1856409
- •
- Pathologic Function
Abnormal periventricular white matter morphology- MedGen UID:
- 435926
- •Concept ID:
- C2673431
- •
- Finding
A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Delayed ability to sit- MedGen UID:
- 1368737
- •Concept ID:
- C4476710
- •
- Finding
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Upslanted palpebral fissure- MedGen UID:
- 98390
- •Concept ID:
- C0423109
- •
- Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Lobulated tongue- MedGen UID:
- 140914
- •Concept ID:
- C0431564
- •
- Congenital Abnormality
Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
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).
Broad forehead- MedGen UID:
- 338610
- •Concept ID:
- C1849089
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
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.
Short philtrum- MedGen UID:
- 350006
- •Concept ID:
- C1861324
- •
- Finding
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.
Thin upper lip vermilion- MedGen UID:
- 355352
- •Concept ID:
- C1865017
- •
- Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Downturned corners of mouth- MedGen UID:
- 356471
- •Concept ID:
- C1866195
- •
- Anatomical Abnormality
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.
Short chin- MedGen UID:
- 784514
- •Concept ID:
- C3697248
- •
- Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Deeply set eye- MedGen UID:
- 473112
- •Concept ID:
- C0423224
- •
- Finding
An eye that is more deeply recessed into the plane of the face than is typical.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation