From HPO
Club-shaped distal femur- MedGen UID:
- 346601
- •Concept ID:
- C1857505
- •
- Finding
An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.
Patchy sclerosis of finger phalanx- MedGen UID:
- 341789
- •Concept ID:
- C1857508
- •
- Finding
Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.
Mixed hearing impairment- MedGen UID:
- 102336
- •Concept ID:
- C0155552
- •
- Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
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.
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Flared metaphysis- MedGen UID:
- 337976
- •Concept ID:
- C1850135
- •
- Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Facial hyperostosis- MedGen UID:
- 347471
- •Concept ID:
- C1857501
- •
- Finding
Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Abnormal thorax morphology- MedGen UID:
- 867424
- •Concept ID:
- C4021797
- •
- Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Metaphyseal dysplasia- MedGen UID:
- 1677924
- •Concept ID:
- C5194606
- •
- Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
Abnormal nasopharynx morphology- MedGen UID:
- 871265
- •Concept ID:
- C4025750
- •
- Anatomical Abnormality
A structural anomaly of the nasopharynx.
Nasal congestion- MedGen UID:
- 6523
- •Concept ID:
- C0027424
- •
- Sign or Symptom
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
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.
Depressed nasal ridge- MedGen UID:
- 334631
- •Concept ID:
- C1842876
- •
- Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Delayed eruption of permanent teeth- MedGen UID:
- 340353
- •Concept ID:
- C1849540
- •
- Finding
Delayed tooth eruption affecting the secondary dentition.
Bony paranasal bossing- MedGen UID:
- 341786
- •Concept ID:
- C1857499
- •
- Finding
Broad alveolar ridges- MedGen UID:
- 347470
- •Concept ID:
- C1857500
- •
- Finding
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).
Optic atrophy- MedGen UID:
- 18180
- •Concept ID:
- C0029124
- •
- Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation