From HPO
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Chronic constipation- MedGen UID:
- 98325
- •Concept ID:
- C0401149
- •
- Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Short-segment aganglionic megacolon- MedGen UID:
- 869014
- •Concept ID:
- C4023431
- •
- Congenital Abnormality
A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Peripheral axonal neuropathy- MedGen UID:
- 266071
- •Concept ID:
- C1263857
- •
- Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the nervous system
- Ear malformation