From HPO
Coxa valga- MedGen UID:
- 116080
- •Concept ID:
- C0239137
- •
- Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Erlenmeyer flask deformity of the femurs- MedGen UID:
- 383796
- •Concept ID:
- C1855895
- •
- Finding
Flaring of distal femur.
Broad first metatarsal- MedGen UID:
- 341001
- •Concept ID:
- C1855899
- •
- Finding
Increased side-to-side width of the first metatarsal bone.
Short hallux- MedGen UID:
- 400890
- •Concept ID:
- C1865992
- •
- Finding
Underdevelopment (hypoplasia) of the big toe.
Broad hallux- MedGen UID:
- 401165
- •Concept ID:
- C1867131
- •
- Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Cardiomegaly- MedGen UID:
- 5459
- •Concept ID:
- C0018800
- •
- Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Pericardial effusion- MedGen UID:
- 10653
- •Concept ID:
- C0031039
- •
- Disease or Syndrome
Accumulation of fluid within the pericardium.
Bicuspid aortic valve- MedGen UID:
- 57436
- •Concept ID:
- C0149630
- •
- Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Congenital hypertrophy of left ventricle- MedGen UID:
- 341003
- •Concept ID:
- C1855901
- •
- Congenital Abnormality
Large for gestational age- MedGen UID:
- 341215
- •Concept ID:
- C1848395
- •
- Finding
The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
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.
Umbilical hernia- MedGen UID:
- 9232
- •Concept ID:
- C0019322
- •
- Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Narrow chest- MedGen UID:
- 96528
- •Concept ID:
- C0426790
- •
- Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
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.
Large sella turcica- MedGen UID:
- 334811
- •Concept ID:
- C1843677
- •
- Finding
An abnormal enlargement of the sella turcica.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Ovoid vertebral bodies- MedGen UID:
- 344549
- •Concept ID:
- C1855665
- •
- Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Enlarged posterior fossa- MedGen UID:
- 340998
- •Concept ID:
- C1855889
- •
- Finding
Abnormal increased size of the posterior cranial fossa.
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.
Cuboid-shaped vertebral bodies- MedGen UID:
- 392973
- •Concept ID:
- C2673653
- •
- Finding
Hypoplastic ischiopubic ramus- MedGen UID:
- 870183
- •Concept ID:
- C4024617
- •
- Finding
Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.
Lymphedema- MedGen UID:
- 6155
- •Concept ID:
- C0024236
- •
- Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Gingival overgrowth- MedGen UID:
- 87712
- •Concept ID:
- C0376480
- •
- Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
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).
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.
Thick lower lip vermilion- MedGen UID:
- 326567
- •Concept ID:
- C1839739
- •
- Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
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.
Thick upper lip vermilion- MedGen UID:
- 339521
- •Concept ID:
- C1846423
- •
- Finding
Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Long eyelashes- MedGen UID:
- 342955
- •Concept ID:
- C1853738
- •
- Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Curly eyelashes- MedGen UID:
- 382159
- •Concept ID:
- C2673670
- •
- Finding
Abnormally curly or curved eyelashes.
Congenital, generalized hypertrichosis- MedGen UID:
- 1807304
- •Concept ID:
- C5574955
- •
- Disease or Syndrome
A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality