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Torticollis-keloids-cryptorchidism-renal dysplasia syndrome(TKCR)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Goeminne syndrome; Torticollis keloids cryptorchidism renal dysplasia; TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
Monarch Initiative: MONDO:0010748
OMIM®: 314300
Orphanet: ORPHA3341


Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. [from ORDO]

Clinical features

From HPO
MedGen UID:
Concept ID:
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
MedGen UID:
Concept ID:
Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Unilateral renal atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
A unilateral form of atrophy of the kidney.
Renal dysplasia
MedGen UID:
Concept ID:
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Varicose disease
MedGen UID:
Concept ID:
Disease or Syndrome
Enlarged and tortuous veins.
MedGen UID:
Concept ID:
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
MedGen UID:
Concept ID:
Acquired Abnormality
An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of inflammation affecting the kidney.
MedGen UID:
Concept ID:
Disease or Syndrome
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Facial asymmetry
MedGen UID:
Concept ID:
An abnormal difference between the left and right sides of the face.
Melanocytic nevus
MedGen UID:
Concept ID:
Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTorticollis-keloids-cryptorchidism-renal dysplasia syndrome
Follow this link to review classifications for Torticollis-keloids-cryptorchidism-renal dysplasia syndrome in Orphanet.

Professional guidelines


Garcia-Manero G
Am J Hematol 2023 Aug;98(8):1307-1325. Epub 2023 Jun 8 doi: 10.1002/ajh.26984. PMID: 37288607
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Patnaik MM, Tefferi A
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Recent clinical studies


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Lee P, Yim R, Yung Y, Chu HT, Yip PK, Gill H
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Pediatr Surg Int 2022 Sep;38(9):1283-1289. Epub 2022 Jul 3 doi: 10.1007/s00383-022-05159-2. PMID: 35780394
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Clinical prediction guides

Raimondi F, Migliaro F, Corsini I, Meneghin F, Dolce P, Pierri L, Perri A, Aversa S, Nobile S, Lama S, Varano S, Savoia M, Gatto S, Leonardi V, Capasso L, Carnielli VP, Mosca F, Dani C, Vento G, Lista G
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Recent systematic reviews

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
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Le Berre C, Peyrin-Biroulet L; SPIRIT-IOIBD study group
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