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Disease Profile

Carpenter syndrome

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

Antenatal

ICD-10

Q87.0

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)

Acrocephalopolysyndactyly type 2; ACPS 2; Acrocephalosyndactyly, type II;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases

Summary

Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner.[1] Treatment focuses on the specific features in each affected person.[2] Life expectancy is shortened but very variable.[1]

Symptoms

The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family.[1] The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits).[2] People with Carpenter syndrome often have intellectual disability (from mild to profound), but some affected people have normal intelligence.[1]

Craniosynostosis prevents the skull from growing normally and can cause a pointed appearance of the head; asymmetry of the head and face; increased pressure within the skull; and characteristic facial features. Facial features may include a flat nasal bridge; down-slanting palpebral fissures (the outside corners of the eye); low-set and abnormally shaped ears; underdeveloped jaws; and abnormal eye shape. Vision problems are common. Some people also have dental abnormalities such as small baby teeth. Abnormalities of the fingers and toes may include fusion of the skin between digits; short digits; or extra digits.

Other signs and symptoms may include obesity, umbilical hernia, hearing loss, heart defects, and other skeletal abnormalities such as as deformed hips, kyphoscoliosis, and knees that angle inward. Nearly all males have genital abnormalities such as undescended testes. A few affected people have organs or tissues within the torso that are in reversed positions.[1]

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
100% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Finger syndactyly
0006101
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
80%-99% of people have these symptoms
Craniosynostosis
0001363
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Obesity
Having too much body fat
0001513
Oxycephaly
0000263
30%-79% of people have these symptoms
Abnormal cornea morphology
0000481
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Cloverleaf skull
0002676
Genu valgum
Knock knees
0002857
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Preaxial foot polydactyly
0001841
5%-29% of people have these symptoms
Kyphoscoliosis
0002751
Patent ductus arteriosus
0001643
Polysplenia
Multiple small spleens
0001748
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Umbilical hernia
0001537
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth

[ more ]

0006349
Aplasia/Hypoplasia of the corpus callosum
0007370
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand

[ more ]

0009843
Aplasia/Hypoplasia of the middle phalanges of the toes
Absent/small middle bones of toe
Absent/underdeveloped middle bones of toe

[ more ]

0010194
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal recessive inheritance
0000007
Brachycephaly
Short and broad skull
0000248
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cerebral atrophy
Degeneration of cerebrum
0002059
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Complete duplication of proximal phalanx of the thumb
Complete duplication of the innermost bone of the thumb
0009608
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Coronal craniosynostosis
0004440
Coxa valga
0002673
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
Duplication of the proximal phalanx of the hallux
Duplication of the innermost bone of big toe
0010093
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flared iliac wings
0002869
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hydronephrosis
0000126
Hydroureter
0000072
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Joint contracture of the hand
0009473
Lambdoidal craniosynostosis
0004443
Large foramen magnum
Big foramen magnum
0002700
Lateral displacement of patellae
0006397
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Metatarsus adductus
Front half of foot turns inward
0001840
Microcornea
Cornea of eye less than 10mm in diameter
0000482

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

        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.

        Where to Start

        • Genetics Home Reference contains information on Carpenter syndrome. This website is maintained by the National Library of Medicine.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • 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 Carpenter syndrome. Click on the link to view a sample search on this topic.

            References

            1. Carpenter syndrome. Genetics Home Reference. May, 2013; https://ghr.nlm.nih.gov/condition/carpenter-syndrome. Accessed 2/5/2015.
            2. Carpenter syndrome. NORD. November 3, 2010; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract. Accessed 2/5/2015.

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