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Tarsal-carpal coalition syndrome(TCC)

MedGen UID:
348322
Concept ID:
C1861305
Disease or Syndrome
Synonyms: NOG-Related-Symphalangism Spectrum Disorder; Tarsal carpal coalition syndrome; Tarsal-Carpal Coalition Syndrome
SNOMED CT: Tarsal-carpal coalition syndrome (702312009); NOG gene-related symphalangism spectrum disorder (702312009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): NOG (17q22)
 
Monarch Initiative: MONDO:0008521
OMIM®: 186570
Orphanet: ORPHA1412

Definition

Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family.

In this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss. [from MedlinePlus Genetics]

Clinical features

From HPO
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
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.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Short 1st metacarpal
MedGen UID:
376561
Concept ID:
C1849311
Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Progressive fusion 2nd-5th pip joints
MedGen UID:
348838
Concept ID:
C1861310
Finding
Humeroradial synostosis
MedGen UID:
418931
Concept ID:
C2930865
Disease or Syndrome
An abnormal osseous union (fusion) between the radius and the humerus.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Abnormality of body height
MedGen UID:
871403
Concept ID:
C4025901
Finding
Deviation from the norm of height with respect to that which is expected according to age and gender norms.
Hearing abnormality
MedGen UID:
871365
Concept ID:
C4025860
Finding
An abnormality of the sensory perception of sound.
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).
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).
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTarsal-carpal coalition syndrome
Follow this link to review classifications for Tarsal-carpal coalition syndrome in Orphanet.

Professional guidelines

Recent clinical studies

Diagnosis

Lau GTY, Athalye-Jape G, Amery N
BMJ Case Rep 2019 Jun 6;12(6) doi: 10.1136/bcr-2019-229391. PMID: 31175114Free PMC Article
Ishino T, Takeno S, Hirakawa K
Eur J Med Genet 2015 Sep;58(9):427-32. Epub 2015 Jul 26 doi: 10.1016/j.ejmg.2015.06.005. PMID: 26211601
Merchant R, Bhatt N, Merchant M
J Foot Ankle Surg 2015 Nov-Dec;54(6):1162-5. Epub 2015 Mar 20 doi: 10.1053/j.jfas.2014.12.021. PMID: 25799911
Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686
Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A
Eur J Med Genet 2008 Jul-Aug;51(4):351-7. Epub 2008 Mar 20 doi: 10.1016/j.ejmg.2008.02.008. PMID: 18440889

Prognosis

Masuda S, Namba K, Mutai H, Usui S, Miyanaga Y, Kaneko H, Matsunaga T
Biochem Biophys Res Commun 2014 May 9;447(3):496-502. Epub 2014 Apr 13 doi: 10.1016/j.bbrc.2014.04.015. PMID: 24735539

Clinical prediction guides

Masuda S, Namba K, Mutai H, Usui S, Miyanaga Y, Kaneko H, Matsunaga T
Biochem Biophys Res Commun 2014 May 9;447(3):496-502. Epub 2014 Apr 13 doi: 10.1016/j.bbrc.2014.04.015. PMID: 24735539
Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686

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