From HPO
Limb undergrowth- MedGen UID:
- 116086
- •Concept ID:
- C0239399
- •
- Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Mesomelia- MedGen UID:
- 107808
- •Concept ID:
- C0549306
- •
- Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Bilateral talipes equinovarus- MedGen UID:
- 332956
- •Concept ID:
- C1837835
- •
- Congenital Abnormality
Bilateral clubfoot deformity.
Shortening of all phalanges of fingers- MedGen UID:
- 868728
- •Concept ID:
- C4023133
- •
- Anatomical Abnormality
Abnormal reduction in length affecting all phalanges.
Shortening of all metacarpals- MedGen UID:
- 870695
- •Concept ID:
- C4025149
- •
- Anatomical Abnormality
Abnormal reduction in length of all metacarpal bones.
Atresia of the external auditory canal- MedGen UID:
- 78613
- •Concept ID:
- C0266597
- •
- Congenital Abnormality
Absence or failure to form of the external auditory canal.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Wide anterior fontanel- MedGen UID:
- 400926
- •Concept ID:
- C1866134
- •
- Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
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.
Wormian bones- MedGen UID:
- 766814
- •Concept ID:
- C3553900
- •
- Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Lethal skeletal dysplasia- MedGen UID:
- 867266
- •Concept ID:
- C4021626
- •
- Anatomical Abnormality
Opacification of the corneal stroma- MedGen UID:
- 602191
- •Concept ID:
- C0423250
- •
- Finding
Reduced transparency of the stroma of cornea.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Ear malformation