From HPO
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal- MedGen UID:
- 341358
- •Concept ID:
- C1849020
- •
- Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Brachydactyly type E- MedGen UID:
- 939359
- •Concept ID:
- C4315392
- •
- Congenital Abnormality
Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003).
Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11.
Also see the hypertension and brachydactyly syndrome (112410).
Moderately short stature- MedGen UID:
- 348380
- •Concept ID:
- C1861519
- •
- Finding
A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
Short clavicles- MedGen UID:
- 96529
- •Concept ID:
- C0426799
- •
- Congenital Abnormality
Reduced length of the clavicles.
Straight clavicles- MedGen UID:
- 870568
- •Concept ID:
- C4025016
- •
- Anatomical Abnormality
An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .
Round face- MedGen UID:
- 116087
- •Concept ID:
- C0239479
- •
- Finding
The facial appearance is more circular than usual as viewed from the front.
Impacted teeth, multiple- MedGen UID:
- 327004
- •Concept ID:
- C1839965
- •
- Finding
The presence of multiple impacted teeth.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality