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Prominent scrotal raphe

MedGen UID:
343801
•Concept ID:
C1852407
•
Finding
Synonym: Prominent perineal raphe
 
HPO: HP:0003246

Definition

Increased size of the ridge of tissue that extends along the midline of the scrotum. [from HPO]

Conditions with this feature

Beare-Stevenson cutis gyrata syndrome
MedGen UID:
377668
•Concept ID:
C1852406
•
Disease or Syndrome
Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).
See: Condition Record
Beare-Stevenson cutis gyrata syndrome

Recent clinical studies

Diagnosis

Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.
Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG
Pediatr Pathol Lab Med 1995 May-Jun;15(3):443-53. doi: 10.3109/15513819509026980. PMID: 8597831
Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.
Goecke T, Dopfer R, Huenges R, Conzelmann W, Feller A, Majewski F
Eur J Pediatr 1981 Jul;136(3):297-305. doi: 10.1007/BF00442998. PMID: 7262101

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