Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Proximal symphalangism 1A(SYM1A)

MedGen UID:: 811492
•Concept ID:: C3714899
•: Disease or Syndrome

Synonyms:	CUSHING SYMPHALANGISM; HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS; SYM1; SYM1A; SYMPHALANGISM, PROXIMAL, 1A

Gene (location): Gene(s) directly associated with this condition or phenotype.	NOG (17q22)

Monarch Initiative:	MONDO:0020733
OMIM®:	185800

Definition

Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146). [from OMIM]

Clinical features

From HPO

Short 5th metacarpal

MedGen UID:: 348858
•Concept ID:: C1861388
•: Finding

Short fifth metacarpal bone.

See: Feature record | Search on this feature

Aplasia/Hypoplasia of the middle phalanges of the hand

MedGen UID:: 354674
•Concept ID:: C1862152
•: Finding

See: Feature record | Search on this feature

Aplasia/Hypoplasia of the middle phalanges of the toes

MedGen UID:: 869548
•Concept ID:: C4023976
•: Finding

See: Feature record | Search on this feature

Metacarpophalangeal synostosis

MedGen UID:: 870663
•Concept ID:: C4025117
•: Anatomical Abnormality

Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.

See: Feature record | Search on this feature

Conductive hearing impairment

MedGen UID:: 9163
•Concept ID:: C0018777
•: Disease or Syndrome

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

See: Feature record | Search on this feature

Stapes ankylosis

MedGen UID:: 350008
•Concept ID:: C1861326
•: Anatomical Abnormality

Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).

See: Feature record | Search on this feature

Tarsal synostosis

MedGen UID:: 539393
•Concept ID:: C0265654
•: Congenital Abnormality

Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).

See: Feature record | Search on this feature

Carpal synostosis

MedGen UID:: 98468
•Concept ID:: C0431863
•: Congenital Abnormality

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).

See: Feature record | Search on this feature

Distal symphalangism of hands

MedGen UID:: 350607
•Concept ID:: C1862158
•: Finding

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.

See: Feature record | Search on this feature

Proximal symphalangism of hands

MedGen UID:: 867247
•Concept ID:: C4021607
•: Anatomical Abnormality

The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of limbs
Abnormality of the musculoskeletal system
Ear malformation
- Conductive hearing impairment
- Stapes ankylosis

Professional guidelines

PubMed

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

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: 31694554 Free PMC Article

See all (1)

Recent clinical studies

Diagnosis

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

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: 31694554 Free PMC Article

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654 Free PMC Article

See all (2)