From HPO
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Headache- MedGen UID:
- 9149
- •Concept ID:
- C0018681
- •
- Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Increased intracranial pressure- MedGen UID:
- 56241
- •Concept ID:
- C0151740
- •
- Finding
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Thickened ribs- MedGen UID:
- 98096
- •Concept ID:
- C0426820
- •
- Finding
Increased thickness (diameter) of ribs.
Facial diplegia- MedGen UID:
- 322796
- •Concept ID:
- C1836003
- •
- Finding
Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
Craniofacial hyperostosis- MedGen UID:
- 358122
- •Concept ID:
- C1868085
- •
- Finding
Excessive growth of the craniofacial bones.
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.
Cortical sclerosis- MedGen UID:
- 870710
- •Concept ID:
- C4025164
- •
- Pathologic Function
Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
Craniofacial osteosclerosis- MedGen UID:
- 892778
- •Concept ID:
- C4025193
- •
- Anatomical Abnormality
Abnormally increased density of craniofacial bone tissue.
Diaphyseal sclerosis- MedGen UID:
- 1631208
- •Concept ID:
- C4551853
- •
- Finding
An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Elevated circulating parathyroid hormone level- MedGen UID:
- 167805
- •Concept ID:
- C0857973
- •
- Finding
An abnormal increased concentration of parathyroid hormone.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Concave nasal ridge- MedGen UID:
- 78105
- •Concept ID:
- C0264169
- •
- Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
Choanal stenosis- MedGen UID:
- 108427
- •Concept ID:
- C0584837
- •
- Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
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.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
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.
Papilledema- MedGen UID:
- 10565
- •Concept ID:
- C0030353
- •
- Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Progressive visual loss- MedGen UID:
- 326867
- •Concept ID:
- C1839364
- •
- Finding
A reduction of previously attained ability to see.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality