Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Entire middle phalanx of lesser toe |
Is a |
True |
Entire middle phalanx |
Inferred relationship |
Some |
|
Entire middle phalanx of hand |
Is a |
False |
Entire middle phalanx |
Inferred relationship |
Some |
|
Entire middle phalanx of hand |
Is a |
False |
Entire middle phalanx |
Inferred relationship |
Some |
|
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. |
Finding site |
True |
Entire middle phalanx |
Inferred relationship |
Some |
2 |
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. |
Finding site |
False |
Entire middle phalanx |
Inferred relationship |
Some |
3 |
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated. |
Finding site |
True |
Entire middle phalanx |
Inferred relationship |
Some |
1 |
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. |
Finding site |
True |
Entire middle phalanx |
Inferred relationship |
Some |
1 |
Brachymesophalangia |
Finding site |
True |
Entire middle phalanx |
Inferred relationship |
Some |
1 |
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Entire middle phalanx |
Inferred relationship |
Some |
1 |
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. |
Finding site |
True |
Entire middle phalanx |
Inferred relationship |
Some |
1 |