Camptodactyly syndrome, guadalajara, type I

Preferred Label : Camptodactyly syndrome, guadalajara, type I;

Symbol : GCS1;

CISMeF acronym : FTSS; GCS1;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : FTSS; Faciothoracoskeletal syndrome;

Description : Cantu et al. (1980) described 2 sisters, aged 18 and 11 years, with intrauterine growth retardation and camptodactyly as a leading feature. They were 142 and 126 cm tall, respectively. Epicanthus, broad nasal bridge, flat face, depressed lower sternum, twelfth rib hypoplasia, fibular hypoplasia, and hallux valgus were other features. The parents were not demonstrably consanguineous but their forebears had lived in the same small village for several generations. Figuera et al. (1993) corroborated and further delineated this syndrome on the basis of 3 sibs from a Mexican family: 2 girls, aged 18 and 9 years, and a 7-year-old boy. They had intrauterine growth retardation, dwarfism, peculiar facial appearance, camptodactyly, and skeletal anomalies. The parents were related as half third cousins. The family was from the same region as the one earlier reported. All 5 reported patients had brachycephaly, microcephaly, flat facies, epicanthal folds, and telecanthus, as well as small, downturned mouth, dental malocclusion, hallux valgus, and pectus carinatum/excavatum. In 2 Brazilian brothers born to consanguineous parents, Richieri-Costa et al. (1994) reported a seemingly 'new' syndrome characterized by thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. The older boy was found to have megacolon at the age of 2 years but surgical intervention was not necessary. Both brothers had seizures. Richieri-Costa et al. (1994) referred to the condition as faciothoracoskeletal syndrome. Ramirez-Duenas and Cantu (1995) suggested, and Richieri-Costa (1995) agreed, that the entity named faciothoracoskeletal syndrome is the same as Guadalajara camptodactyly syndrome type I. Zechi-Ceide et al. (2002) reported a Brazilian female with a thin/long face, blepharophimosis, minor auricular anomalies, camptodactyly, and thoracic and spinal anomalies. The authors considered the clinical features in this patient to be consistent with the diagnosis of Guadalajara camptodactyly syndrome type I. Also see Guadalajara camptodactyly syndrome type II (211920) and type III (611929). *FIELD* RF 1. Cantu, J. M.; Rivera, H.; Nazara, Z.; Rojas, Q.; Hernandez, A.; Garcia-Cruz, D.: Guadalajara camptodactyly syndrome: a distinct probably autosomal recessive disorder. Clin. Genet. 18: 153-159, 1980. 2. Figuera, L. E.; Ramirez-Duenas, M. L.; Garcia-Cruz, D.; Villar, V.; Cantu, J. M.: Guadalajara camptodactyly syndrome type I: a corroborative family. Clin. Genet. 43: 11-15, 1993. 3. Ramirez-Duenas, M. L.; Cantu, J. M.: Are the faciothoracoskeletal syndrome and the Guadalajara camptodactyly syndrome type I distinct entities. (Letter) Am. J. Med. Genet. 58: 293 only, 1995. 4. Richieri-Costa, A.: Reply to Dr. Ramiriz-Duenas and Dr. Cantu. (Letter) Am. J. Med. Genet. 58: 294 only, 1995. 5. Richieri-Costa, A.; Guion-Almeida, M. L.; Lauris, J. R. P.; Ferreira, D. M.: Newly recognized autosomal recessive faciothoracoskeletal syndrome. Am. J. Med. Genet. 49: 224-228, 1994. 6. Zechi-Ceide, R. M.; Guion-Almeida, M. L.; Richieri-Costa, A.: Guadalajara camptodactyly syndrome type I: report on a new case. Clin. Dysmorph. 11: 129-132, 2002. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 211910;

Details

Origin ID

211910;

UMLS CUI

C1859359;

Automatic exact mappings (from CISMeF team)
- Foot per Second Squared [NCIt concept]
- camptodactyly syndrome, guadalajara, type ii [MeSH concept]
- mannosyl-oligosaccharide glucosidase [ORDO Gene]
- mannosyl-oligosaccharide glucosidase [HGNC gene]
- material safety data sheets [MeSH Descriptor]
CISMeF manual mappings
- Camptodactyly syndrome Guadalajara type 1 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Camptodactyly syndrome Guadalajara type 1 [MeSH concept]
- Camptodactyly syndrome, Guadalajara type 1 [ORDO Disease]
- camptodactyly syndrome guadalajara type 1 [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of dental eruption [HPO term]
- Absent ethmoidal sinuses [HPO term]
- Absent frontal sinuses [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly of 2nd-5th fingers [HPO term]
- Cubitus valgus [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Fibular hypoplasia [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Hallux valgus [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Horizontal sacrum [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic 5th lumbar vertebrae [HPO term]
- Hypoplastic iliac wing [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long neck [HPO term]
- Low-set ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Melanocytic nevus [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Overfolding of the superior helices [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Sacral dimple [HPO term]
- Scapular winging [HPO term]
- Seizure [HPO term]
- Short feet [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short foot [HPO term]
- Short metatarsal [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Small earlobe [HPO term]
- Small, downturned mouth [HPO term]
- Spina bifida occulta [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Toe syndactyly [HPO term]
- Tubular metacarpal bones [HPO term]
- Twelfth rib hypoplasia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Camptodactyly syndrome, Guadalajara type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly syndrome Guadalajara type 1 [MeSH concept]
- Camptodactyly syndrome Guadalajara type 1 (disorder) [SNOMED CT concept]
- Camptodactyly syndrome, Guadalajara type 1 [ORDO Disease]
- camptodactyly syndrome guadalajara type 1 [MeSH Supplementary Concept]

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