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).
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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- 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.
Scarring- MedGen UID:
- 3093
- •Concept ID:
- C0008767
- •
- Pathologic Function
A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.
Hemivertebrae- MedGen UID:
- 82720
- •Concept ID:
- C0265677
- •
- Congenital Abnormality
Absence of one half of the vertebral body.
Supernumerary ribs- MedGen UID:
- 83380
- •Concept ID:
- C0345397
- •
- Congenital Abnormality
The presence of more than 12 rib pairs.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Eosinophilia- MedGen UID:
- 41824
- •Concept ID:
- C0014457
- •
- Disease or Syndrome
Increased count of eosinophils in the blood.
Keratitis- MedGen UID:
- 44013
- •Concept ID:
- C0022568
- •
- Disease or Syndrome
Inflammation of the cornea.
Leukocytosis- MedGen UID:
- 9736
- •Concept ID:
- C0023518
- •
- Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Uveitis- MedGen UID:
- 52961
- •Concept ID:
- C0042164
- •
- Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Maculopapular exanthema- MedGen UID:
- 98072
- •Concept ID:
- C0423791
- •
- Finding
A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.
Partial congenital absence of teeth- MedGen UID:
- 43794
- •Concept ID:
- C0020608
- •
- Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400.
Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978).
Genetic Heterogeneity of Selective Tooth Agenesis
Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13.
A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216).
Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.
Genotype-Phenotype Correlations
Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Delayed eruption of teeth- MedGen UID:
- 68678
- •Concept ID:
- C0239174
- •
- Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Conical tooth- MedGen UID:
- 82730
- •Concept ID:
- C0266037
- •
- Congenital Abnormality
An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Oligodontia- MedGen UID:
- 904670
- •Concept ID:
- C4082304
- •
- Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Erythema- MedGen UID:
- 11999
- •Concept ID:
- C0041834
- •
- Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Nail pits- MedGen UID:
- 57463
- •Concept ID:
- C0150993
- •
- Finding
Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Pallor- MedGen UID:
- 69133
- •Concept ID:
- C0241137
- •
- Finding
Abnormally pale skin.
Onychogryposis- MedGen UID:
- 82671
- •Concept ID:
- C0263537
- •
- Disease or Syndrome
Nail that appears thick when viewed on end.
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Ridged nail- MedGen UID:
- 140853
- •Concept ID:
- C0423820
- •
- Finding
Longitudinal, linear prominences in the nail plate.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
Hyperkeratosis- MedGen UID:
- 209030
- •Concept ID:
- C0870082
- •
- Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Abnormality of skin pigmentation- MedGen UID:
- 224697
- •Concept ID:
- C1260926
- •
- Finding
An abnormality of the pigmentation of the skin.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Abnormal blistering of the skin- MedGen UID:
- 412159
- •Concept ID:
- C2132198
- •
- Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Atrophic, patchy alopecia- MedGen UID:
- 870854
- •Concept ID:
- C4025314
- •
- Disease or Syndrome
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Breast aplasia- MedGen UID:
- 539633
- •Concept ID:
- C0266009
- •
- Congenital Abnormality
Failure to develop and congenital absence of the breast.
Supernumerary nipple- MedGen UID:
- 120564
- •Concept ID:
- C0266011
- •
- Congenital Abnormality
Presence of more than two nipples.
Breast hypoplasia- MedGen UID:
- 75594
- •Concept ID:
- C0266013
- •
- Congenital Abnormality
Underdevelopment of the breast.
Hypoplastic nipples- MedGen UID:
- 98156
- •Concept ID:
- C0432355
- •
- Congenital Abnormality
Underdevelopment of the nipple.
Microphthalmia- MedGen UID:
- 10033
- •Concept ID:
- C0026010
- •
- Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
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.
Retinal detachment- MedGen UID:
- 19759
- •Concept ID:
- C0035305
- •
- Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Retinal hemorrhage- MedGen UID:
- 11210
- •Concept ID:
- C0035317
- •
- Pathologic Function
Hemorrhage occurring within the retina.
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.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Foveal hypoplasia- MedGen UID:
- 393047
- •Concept ID:
- C2673946
- •
- Finding
Underdevelopment of the fovea centralis.
Retinal vascular proliferation- MedGen UID:
- 1640625
- •Concept ID:
- C4551695
- •
- Finding
- Abnormality of head or neck
- Abnormality of the breast
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality