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Symphalangism, proximal, 1B(SYM1B)

MedGen UID:
815434
Concept ID:
C3809104
Disease or Syndrome
Synonym: SYM1B
 
Gene (location): GDF5 (20q11.22)
 
Monarch Initiative: MONDO:0014125
OMIM®: 615298

Definition

Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. [from MONDO]

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Proximal/middle symphalangism of 5th finger
MedGen UID:
332151
Concept ID:
C1836212
Finding
Fusion of the proximal and middle phalanges of the 5th finger.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Abnormal finger flexion crease
MedGen UID:
347157
Concept ID:
C1859481
Anatomical Abnormality
Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).
Short 2nd finger
MedGen UID:
396302
Concept ID:
C1862142
Finding
Hypoplasia of the second finger, also known as the index finger.

Professional guidelines

PubMed

Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free PMC Article

Recent clinical studies

Diagnosis

Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free PMC Article

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