U.S. flag

An official website of the United States government


Send to:

Choose Destination

Camptodactyly syndrome, Guadalajara type 2

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Guadalajara camptodactyly syndrome type II
SNOMED CT: Camptodactyly syndrome Guadalajara type 2 (720603002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0008899
OMIM®: 211920
Orphanet: ORPHA1326


An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Camptodactyly syndrome, Guadalajara type 2 in Orphanet.

Recent clinical studies


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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...