From HPO
Overlapping toe- MedGen UID:
- 182531
- •Concept ID:
- C0920299
- •
- Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.
Cutaneous syndactyly of toes- MedGen UID:
- 320423
- •Concept ID:
- C1834737
- •
- Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
Sandal gap- MedGen UID:
- 374376
- •Concept ID:
- C1840069
- •
- Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Duodenal ulcer- MedGen UID:
- 41670
- •Concept ID:
- C0013295
- •
- Disease or Syndrome
An erosion of the mucous membrane in a portion of the duodenum.
Chronic constipation- MedGen UID:
- 98325
- •Concept ID:
- C0401149
- •
- Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Absent earlobe- MedGen UID:
- 341440
- •Concept ID:
- C1849364
- •
- Anatomical Abnormality
Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
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.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Autistic behavior- MedGen UID:
- 163547
- •Concept ID:
- C0856975
- •
- Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Blepharophimosis- MedGen UID:
- 2670
- •Concept ID:
- C0005744
- •
- Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
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.
Short palpebral fissure- MedGen UID:
- 98067
- •Concept ID:
- C0423112
- •
- Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
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).
Agenesis of permanent teeth- MedGen UID:
- 224851
- •Concept ID:
- C1290511
- •
- Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Square face- MedGen UID:
- 371253
- •Concept ID:
- C1832127
- •
- Finding
Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
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.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Deep philtrum- MedGen UID:
- 374311
- •Concept ID:
- C1839797
- •
- Finding
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
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).
Full cheeks- MedGen UID:
- 355661
- •Concept ID:
- C1866231
- •
- Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Narrow nasal bridge- MedGen UID:
- 1641596
- •Concept ID:
- C4551564
- •
- Finding
Decreased width of the bony bridge of the nose.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
- 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
- Abnormality of the respiratory system
- Ear malformation