From HPO
Broad thumb- MedGen UID:
- 140880
- •Concept ID:
- C0426891
- •
- Finding
Increased thumb width without increased dorso-ventral dimension.
Thumbs, congenital Clasped- MedGen UID:
- 98140
- •Concept ID:
- C0431886
- •
- Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Short distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
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.
Long hallux- MedGen UID:
- 400514
- •Concept ID:
- C1864375
- •
- Finding
Increased length of the big toe.
Proximal placement of thumb- MedGen UID:
- 356033
- •Concept ID:
- C1865572
- •
- Finding
Proximal mislocalization of the thumb.
Broad hallux- MedGen UID:
- 401165
- •Concept ID:
- C1867131
- •
- Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Pseudoepiphysis of the thumb- MedGen UID:
- 765398
- •Concept ID:
- C3552484
- •
- Finding
A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Gastroesophageal reflux- MedGen UID:
- 1368658
- •Concept ID:
- C4317146
- •
- Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
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.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
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.
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.
Wide mouth- MedGen UID:
- 44238
- •Concept ID:
- C0024433
- •
- Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Myopathic facies- MedGen UID:
- 90695
- •Concept ID:
- C0332615
- •
- Finding
A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
Wide nose- MedGen UID:
- 140869
- •Concept ID:
- C0426421
- •
- Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
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.
Thick vermilion border- MedGen UID:
- 332232
- •Concept ID:
- C1836543
- •
- Finding
Increased width of the skin of vermilion border region of upper lip.
Thick nasal alae- MedGen UID:
- 335032
- •Concept ID:
- C1844809
- •
- Finding
Increase in bulk of the ala nasi.
Short columella- MedGen UID:
- 341783
- •Concept ID:
- C1857479
- •
- Finding
Reduced distance from the anterior border of the naris to the subnasale.
Flat forehead- MedGen UID:
- 347463
- •Concept ID:
- C1857485
- •
- Finding
A forehead with abnormal flatness.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
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.
Absent nail of hallux- MedGen UID:
- 866734
- •Concept ID:
- C4021081
- •
- Anatomical Abnormality
Absent nail of big toe.
Absent thumbnail- MedGen UID:
- 868455
- •Concept ID:
- C4022849
- •
- Finding
Absence of thumb nail.
Hypoplastic thumbnail- MedGen UID:
- 868456
- •Concept ID:
- C4022850
- •
- Anatomical Abnormality
A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.
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).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system