U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Brachydactyly type E1(BDE1)

MedGen UID:
396291
Concept ID:
C1862102
Congenital Abnormality; Finding; Finding
Synonym: BDE1
 
Gene (location): HOXD13 (2q31.1)
 
Monarch Initiative: MONDO:0007223
OMIM®: 113300

Definition

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene. [from MONDO]

Clinical features

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.

Term Hierarchy

Recent clinical studies

Etiology

Shoemaker AH, Bremer AA
Pediatr Ann 2012 Apr;41(4):e1-5. doi: 10.3928/00904481-20120307-10. PMID: 22494214

Diagnosis

Shoemaker AH, Bremer AA
Pediatr Ann 2012 Apr;41(4):e1-5. doi: 10.3928/00904481-20120307-10. PMID: 22494214

Clinical prediction guides

Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, Germain-Lee EL
PLoS One 2011;6(6):e21755. Epub 2011 Jun 29 doi: 10.1371/journal.pone.0021755. PMID: 21747923Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...