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).
Aprosencephaly- MedGen UID:
- 140908
- •Concept ID:
- C0431349
- •
- Congenital Abnormality
A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.
Cerebellar dysplasia- MedGen UID:
- 479952
- •Concept ID:
- C3278322
- •
- Finding
Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.
Absent mesencephalon- MedGen UID:
- 870467
- •Concept ID:
- C4024913
- •
- Anatomical Abnormality
Agenesis of the midbrain.
Poorly formed metencephalon- MedGen UID:
- 870504
- •Concept ID:
- C4024951
- •
- Anatomical Abnormality
A morphological abnormality of the metencephalon.
Craniosynostosis syndrome- MedGen UID:
- 1163
- •Concept ID:
- C0010278
- •
- Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Bifid uvula- MedGen UID:
- 1646931
- •Concept ID:
- C4551488
- •
- Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Retinal dysplasia- MedGen UID:
- 48433
- •Concept ID:
- C0035313
- •
- Congenital Abnormality
The presence of developmental dysplasia of the retina.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system