Goeminne Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Goeminne syndrome is a very rare congenital disease with the main features of torticollis , multiple spontaneous keloids , cryptorchidism and renal dysplasia .
Synonyms are: Latin cervico-dermo-reno-genital dysplasia ; Torticollis - keloid - cryptoorchidia - kidney dysplasia; TKC; TKCR syndrome
The name refers to the author of the first description from 1968 by the Belgian internist Luc Goeminne .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is X-linked dominant .
root cause
The disease are mutations in TKCR - gene on the X chromosome locus q28 based.
Clinical manifestations
Clinical criteria are:
- congenital muscular torticollis, shortened sternocleidomastoid muscle
- as a result, asymmetry of the face and skull
- in puberty spontaneously occurring keloids and pigmented nevi
- Genital malformations : cryptorchidism, testicular hypoplasia or missing testicles (testicular aplasia)
- chronic pyelonephritis due to kidney dysplasia
- Varicosis
- Clinodactyly of the 5th finger, extended 2nd toe
- increased Impressiones digitatae
literature
- JP Fryns, D. Gevers: Goeminne syndrome (OMIM 314300): another male patient 30 years later. In: Genetic counseling. Vol. 14, No. 1, 2003, pp. 109-111, PMID 12725596 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b Torticollis - Keloid - Cryptoorchidia - Renal Dysplasia. In: Orphanet (Rare Disease Database).
- ↑ L. Goeminne: A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchidism and renal dysplasia. In: Acta geneticae medicae et gemellologiae. Vol. 17, No. 3, July 1968, pp. 439-467, PMID 4387470 .
- ↑ Goeminne TKCR syndrome. In: Online Mendelian Inheritance in Man . (English)
