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Disease Profile

Camptodactyly syndrome Guadalajara type 1

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

GCS 1; FTSS; Faciothoracoskeletal syndrome

Categories

Congenital and Genetic Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1327

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

Epidemiology
To date only eight cases have been reported in the literature.

Clinical description
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.

Genetic counseling
The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Abnormality of dental eruption
Abnormality of tooth eruption
0006292
Attached earlobe
0009907
Camptodactyly of finger
Permanent flexion of the finger
0100490
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Flat face
Flat facial shape
0012368
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth

[ more ]

0010807
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Telecanthus
Corners of eye widely separated
0000506
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Brachycephaly
Short and broad skull
0000248
Brachydactyly
Short fingers or toes
0001156
Cubitus valgus
Outward turned elbows
0002967
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Global developmental delay
0001263
Hallux valgus
Bunion
0001822
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Melanocytic nevus
Beauty mark
0000995
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Narrow mouth
Small mouth
0000160
Scapular winging
Winged shoulder blade
0003691
Seizure
0001250
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short toe
Short toes
Stubby toes

[ more ]

0001831
Spina bifida
0002414
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
5%-29% of people have these symptoms
Blepharophimosis
Narrow opening between the eyelids
0000581
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Low-set, posteriorly rotated ears
0000368
Sacral dimple
Spinal dimple
0000960
Short distal phalanx of finger
Short outermost finger bone
0009882
Synophrys
Monobrow
Unibrow

[ more ]

0000664
Percent of people who have these symptoms is not available through HPO
Absent ethmoidal sinuses
0005456
Absent frontal sinuses
0002688
Autosomal recessive inheritance
0000007
Bifid uvula
0000193
Camptodactyly of 2nd-5th fingers
0001215
Fibular hypoplasia
Short calf bone
0003038
Horizontal sacrum
0003440
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Camptodactyly syndrome Guadalajara type 1. Click on the link to view a sample search on this topic.

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