From HPO
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Small thenar eminence- MedGen UID:
- 335432
- •Concept ID:
- C1846474
- •
- Finding
Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.
Small hypothenar eminence- MedGen UID:
- 396124
- •Concept ID:
- C1861395
- •
- Finding
Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.
Absent phalangeal crease- MedGen UID:
- 349522
- •Concept ID:
- C1862479
- •
- Finding
Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).
Abnormal pinna morphology- MedGen UID:
- 167800
- •Concept ID:
- C0857379
- •
- Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Torticollis- MedGen UID:
- 11859
- •Concept ID:
- C0040485
- •
- Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Spina bifida occulta- MedGen UID:
- 36380
- •Concept ID:
- C0080174
- •
- Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
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.
Retrognathia- MedGen UID:
- 19766
- •Concept ID:
- C0035353
- •
- Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Joint contracture of the hand- MedGen UID:
- 56382
- •Concept ID:
- C0158113
- •
- Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
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.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Symblepharon- MedGen UID:
- 509041
- •Concept ID:
- C0152454
- •
- Pathologic Function
A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.
Webbed neck- MedGen UID:
- 113154
- •Concept ID:
- C0221217
- •
- Congenital Abnormality
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.
Telecanthus- MedGen UID:
- 140836
- •Concept ID:
- C0423113
- •
- Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
Nevus- MedGen UID:
- 45074
- •Concept ID:
- C0027960
- •
- Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
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 eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation