From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Male urethral meatus stenosis- MedGen UID:
- 1694020
- •Concept ID:
- C4760707
- •
- Disease or Syndrome
An abnormal narrowing of the urethral opening (meatus) of the penis.
Bilateral single transverse palmar creases- MedGen UID:
- 354661
- •Concept ID:
- C1862095
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
Small earlobe- MedGen UID:
- 334587
- •Concept ID:
- C1842680
- •
- Finding
Reduced volume of the earlobe.
Broad nasal tip- MedGen UID:
- 98424
- •Concept ID:
- C0426429
- •
- Finding
Increase in width of the nasal tip.
Smooth philtrum- MedGen UID:
- 222980
- •Concept ID:
- C1142533
- •
- Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
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).
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Highly arched eyebrow- MedGen UID:
- 358357
- •Concept ID:
- C1868571
- •
- Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Absent nipple- MedGen UID:
- 64223
- •Concept ID:
- C0175755
- •
- Congenital Abnormality
Congenital failure to develop, and absence of, the nipple.
Hypoplastic nipples- MedGen UID:
- 98156
- •Concept ID:
- C0432355
- •
- Congenital Abnormality
Underdevelopment of the nipple.
Hypoplastic areola- MedGen UID:
- 477663
- •Concept ID:
- C3276032
- •
- Finding
Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the breast
- Abnormality of the ear
- Abnormality of the genitourinary system