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camptodactyly syndrome, Guadalajara type 2

^ http://purl.obolibrary.org/obo/MONDO_0008899

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by 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. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. [ Orphanet:1326 ]

Term info

database cross reference
  • MESH:C567138 (MONDO:equivalentTo)
  • SCTID:720603002 (MONDO:equivalentTo)
  • Orphanet:1326 (OMIM:211920)
  • GARD:0001068 (MONDO:equivalentTo)
  • OMIM:211920 (Orphanet:1326/e)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by 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. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.

exactMatch

https://omim.org/entry/211920, http://purl.obolibrary.org/obo/Orphanet_1326, http://identifiers.org/snomedct/720603002, http://identifiers.org/mesh/C567138

has related synonym

Guadalajara camptodactyly syndrome type II, camptodactyly syndrome, Guadalajara, type 2, camptodactyly syndrome Guadalajara type 2, camptodactyly syndrome, Guadalajara, type II

id

MONDO:0008899

seeAlso

https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2