Commissural lip pits- MedGen UID:
- 98001
- •Concept ID:
- C0399605
- •
- Finding
A depression located at an oral commissure.
Curly hair, ankyloblepharon, nail dysplasia syndrome- MedGen UID:
- 98035
- •Concept ID:
- C0406733
- •
- Disease or Syndrome
CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017).
Branchiootic syndrome 3- MedGen UID:
- 333995
- •Concept ID:
- C1842124
- •
- Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Branchiootic syndrome 2- MedGen UID:
- 377737
- •Concept ID:
- C1852718
- •
- Disease or Syndrome