Pfeiffer-type cardiocranial syndrome

Title

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Other Names:

Pfeiffer cardiocranial syndrome; Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis; Pfeiffer Singer Zschiesche syndrome; Pfeiffer cardiocranial syndrome; Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis; Pfeiffer Singer Zschiesche syndrome; Cardiocranial syndrome, Pfeiffer type; Craniosynostosis-congenital heart disease-intellectual disability syndrome; Pfeiffer-Singer-Zschiesche syndrome; Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis See More

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary

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

Orpha Number: 2872

Definition

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).

Clinical description

Genital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. Joint and palpebral abnormalities may also occur.

Etiology

The etiology remains unknown. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.

Management and treatment

Management depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered.

Visit the Orphanet disease page for more resources.

Last updated: 11/1/2006

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Global developmental delay		0001263
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Sagittal craniosynostosis	Early closure of midline skull joint Midline skull joint closes early [ more ]	0004442
Temporomandibular joint ankylosis	Freezing of jaw joint	0012478
30%-79% of people have these symptoms
Abnormal hair whorl	Abnormal hair whorls Abnormal whorl of hair [ more ]	0010721
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Abnormal trachea morphology		0002778
Bifid uvula		0000193
Broad philtrum		0000289
Contracture of the proximal interphalangeal joint of the 2nd finger		0009540
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Cutaneous syndactyly of toes	Webbed skin of toes	0010621
Deep palmar crease	Deep palm line	0006191
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Episodic tachypnea		0002876
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypospadias		0000047
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Low-set, posteriorly rotated ears		0000368
Micropenis	Short penis Small penis [ more ]	0000054
Plantar flexion contractures		0008112
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Short stature	Decreased body height Small stature [ more ]	0004322
Slender finger	Narrow fingers Slender fingers thin fingers [ more ]	0001238
Small hypothenar eminence		0010487
Sparse hair		0008070
Torticollis	Wry neck	0000473
Umbilical hernia		0001537
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Percent of people who have these symptoms is not available through HPO
Abnormal tracheobronchial morphology		0005607
Abnormality of cardiovascular system morphology		0030680
Autosomal recessive inheritance		0000007
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Microphallus		0030260
Trismus	Lockjaw	0000211

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Last updated: 1/1/2021

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn 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 Pfeiffer-type cardiocranial syndrome. Click on the link to view a sample search on this topic.

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