Camptodactyly syndrome, guadalajara, type II

Preferred Label : Camptodactyly syndrome, guadalajara, type II;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Cantu et al. (1981, 1985) reported a second Guadalajara camptodactyly syndrome; see 211910 for a description of type I. Two sisters, aged 6 and 3 years, presented the same intrauterine growth retardation-malformation syndrome characterized by low-birth-weight dwarfism and a variety of dysmorphic features including camptodactyly of all fingers, bilateral hallux valgus, short toes 2, 4 and 5, patella hypoplasia, short neck, low-set ears, microcephaly, cuboid vertebral bodies, and others. *FIELD* RF 1. Cantu, J. M.; Garcia-Cruz, D.; Gil-Viera, J.; Nazara, Z.; Ramirez, M. L.; Sole-Pujol, M. T.; Sanchez-Corona, J.: Guadalajara camptodactyly syndrome type II. Clin. Genet. 28: 54-60, 1985. 2. Cantu, J. M.; Garcia-Cruz, D.; Ramirez, M. L.; Sole-Pujol, M. T. : Guadalajara camptodactyly syndrome type II. (Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem 263 only, 1981. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 211920;

Details

Origin ID

211920;

UMLS CUI

C2931680;

CISMeF manual mappings
- Camptodactyly syndrome Guadalajara type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Camptodactyly syndrome Guadalajara type 2 [MeSH concept]
- Camptodactyly syndrome, Guadalajara type 2 [ORDO Disease]
- camptodactyly syndrome guadalajara type 2 [MeSH Supplementary Concept]
- camptodactyly syndrome, guadalajara, type ii [MeSH concept]
HPO term(s)
- Abnormality of the neck [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Brachydactyly, toes and second metatarsal [HPO term]
- Camptodactyly of finger [HPO term]
- Cuboid-shaped vertebral bodies [HPO term]
- Hallux valgus [HPO term]
- Hypotelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Labial hypoplasia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Osteopenia [HPO term]
- Patellar hypoplasia [HPO term]
- Pectus excavatum [HPO term]
- Short 2nd toe [HPO term]
- Short 3rd toe [HPO term]
- Short 4th toe [HPO term]
- Short 5th toe [HPO term]
- Short middle phalanx of finger [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Slender long bone [HPO term]
- Talipes equinovarus [HPO term]
- Thin, gracile long bones [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Camptodactyly syndrome, Guadalajara type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly syndrome Guadalajara type 2 [MeSH concept]
- Camptodactyly syndrome Guadalajara type 2 (disorder) [SNOMED CT concept]
- camptodactyly syndrome guadalajara type 2 [MeSH Supplementary Concept]
- camptodactyly syndrome, guadalajara, type ii [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients