Camptodactyly syndrome, Guadalajara

MedGen UID:: 834043
•Concept ID:: CN120500
•: Disease or Syndrome

Synonym:	camptodactyly syndrome, Guadalajara

Monarch Initiative:	MONDO:0000111

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCamptodactyly syndrome, Guadalajara

Camptodactyly syndrome, Guadalajara

Recent clinical studies

Diagnosis

A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.

Gutiérrez-Franco Mde L, Madariaga-Campos Mde L, Vásquez-Velásquez AI, Matute E, Guevara-Yáñez R, Rivera H
Korean J Lab Med 2010 Jun;30(3):318-24. doi: 10.3343/kjlm.2010.30.3.318. PMID: 20603595

Guadalajara camptodactyly syndrome type I: report on a new case.

Zechi-Ceide RM, Guion-Almeida ML, Richieri-Costa A
Clin Dysmorphol 2002 Apr;11(2):129-32. doi: 10.1097/00019605-200204000-00011. PMID: 12002144

Guadalajara camptodactyly syndrome type I. A corroborative family.

Figuera LE, Ramírez-Dueñas ML, García-Cruz D, Villar V, Cantú JM
Clin Genet 1993 Jan;43(1):11-5. doi: 10.1111/j.1399-0004.1993.tb04418.x. PMID: 7681735

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Prognosis

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI
Eur J Med Genet 2009 Jul-Aug;52(4):242-6. Epub 2009 Apr 14 doi: 10.1016/j.ejmg.2009.04.001. PMID: 19371797

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