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Camptodactyly Syndrome, Guadalajara Type 1

Last updated April 23, 2018

Approved by: Maulik P. Purohit MD MPH

Camptodactyly Syndrome, Guadalajara Type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Faciothoracoskeletal syndrome 
  • FTSS
  • GCS 1

What is Camptodactyly Syndrome, Guadalajara Type 1? (Definition/Background Information)

  • Camptodactyly Syndrome, Guadalajara Type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies
  • Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed

(Source: Camptodactyly Syndrome, Guadalajara Type 1; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

(Source: Camptodactyly Syndrome, Guadalajara Type 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Camptodactyly Syndrome, Guadalajara Type 1? (Age and Sex Distribution)

  • Camptodactyly Syndrome, Guadalajara Type 1 is an extremely rare disorder. To date only eight cases have been reported in the literature
  • The manifestation of symptoms may begin in the neonatal phase of life

(Source: Camptodactyly Syndrome, Guadalajara Type 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

  • Both genders may be affected by this disorder

What are the Risk Factors for Camptodactyly Syndrome, Guadalajara Type 1? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Camptodactyly Syndrome, Guadalajara Type 1 is an inherited condition 
  • Having parents who are close blood relatives is a risk factor for developing Camptodactyly Syndrome, Guadalajara Type 1 as well

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Camptodactyly Syndrome, Guadalajara Type 1? (Etiology)

  • The gene mutations that cause Camptodactyly Syndrome, Guadalajara Type 1 are not known
  •  The disorder is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Camptodactyly Syndrome, Guadalajara Type 1?

The signs and symptoms of Camptodactyly Syndrome, Guadalajara Type 1 may differ between affected individuals. The following are the signs and symptoms of the disorder:

Very frequently present symptoms in 80-99% of the cases: 

  • Abnormal form of the vertebral bodies                   
  • Abnormality of dental eruption 
  • Attached earlobe             
  • Camptodactyly of finger
  • Dental malocclusion
  • Flat face                
  • Microtia                
  • Midface retrusion            
  • Open bite
  • Pectus carinatum
  • Pectus excavatum
  • Telecanthus

Frequently present symptoms in 30-79% of the cases:

  • Anteverted nares
  • Brachycephaly   
  • Brachydactyly   
  • Cubitus valgus  
  • Delayed skeletal maturation
  • Downturned corners of mouth
  • Epicanthus
  • Hallux valgus
  • High palate
  • Intellectual disability 
  • Intrauterine growth retardation
  • Melanocytic nevus 
  • Microcephaly
  • Microcornea
  • Narrow chest
  • Narrow face
  • Narrow mouth
  • Scapular winging
  • Seizures
  • Short nose 
  • Short toe 
  • Spina bifida 
  • Toe syndactyly 
  • Underdeveloped supraorbital ridges

Occasionally present symptoms in 5-29% of the cases:

  • Blepharophimosis
  • Highly arched eyebrow
  • Long face
  • Low-set, posteriorly rotated ears
  • Sacral dimple
  • Short distal phalanx of finger 
  • Synophrys

Other signs and symptoms include:

  • Absent ethmoidal sinuses
  • Absent frontal sinuses
  • Bifid uvula
  • Camptodactyly of 2nd-5th fingers
  • Fibular hypoplasia
  • Horizontal sacrum
  • Hypertelorism
  • Hypoplastic 5th lumbar vertebrae
  • Hypoplastic iliac wing
  • Long neck
  • Low-set ears
  • Lumbar hyperlordosis
  • Malar flattening
  • Overfolding of the superior helices
  • Posteriorly rotated ears
  • Short femoral neck
  • Short foot
  • Short metatarsal
  • Short palm
  • Short palpebral fissure
  • Small earlobe
  • Spina bifida occulta
  • Tubular metacarpal bones
  • Twelfth rib hypoplasia
  • Upslanted palpebral fissure
  • Wormian bones

(Source: Camptodactyly syndrome, Guadalajara type 1;Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Camptodactyly Syndrome, Guadalajara Type 1 Diagnosed?

Camptodactyly Syndrome, Guadalajara type 1 is diagnosed on the basis of the following information: 

  • Complete physical examination 
  • Thorough medical history evaluation 
  • Assessment of signs and symptoms 
  • Laboratory tests 
  • Imaging studies 
  • Biopsy studies, if necessary 

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Camptodactyly Syndrome, Guadalajara Type 1?

The complications of Camptodactyly Syndrome, Guadalajara Type 1 may include: 

  • Failure to thrive after birth
  • Delay in achieving developmental milestones
  • Trauma/injury: Seizures can lead to fall injuries affecting the head, or cause bone fractures
  • Status Epilepticus is a seizure that lasts longer than normal. A time duration of 30-60 minutes is generally considered a minimum requirement for usage of the term Status Epilepticus, to describe the condition. It is considered a serious life-threatening condition and is a medical emergency
  • Psychological issues; especially depression, anxiety, and in some cases suicidal tendencies are noted
  • Complications during pregnancy: There is a potential for reduction in fertility. Certain anti-epileptic medications increase the risk of birth defects
  • Sudden unexplained deaths with Epilepsy: This phenomenon is not well understood, but could be related to disturbances in the heart's rhythm or due to breathing problems

Complications may occur with or without treatment, and in some cases, due to treatment also. 

How is Camptodactyly Syndrome, Guadalajara Type 1 Treated?

There is no cure for Camptodactyly Syndrome, Guadalajara Type 1, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Camptodactyly Syndrome, Guadalajara Type 1 be Prevented?

  • Camptodactyly Syndrome, Guadalajara Type 1 may not be preventable, since it is a genetic disorder
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Camptodactyly Syndrome, Guadalajara Type 1? (Outcomes/Resolutions)  

  • The prognosis of Camptodactyly Syndrome, Guadalajara Type 1 is dependent upon the severity of the signs and symptoms and associated complications, if any 
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications 
  • Typically, the prognosis may be assessed on a case-by-case basis 

Additional and Relevant Useful Information for Camptodactyly Syndrome, Guadalajara Type 1:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 23, 2018
Last updated: April 23, 2018