National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Crane-Heise syndrome


Other Names:
Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1512

Definition
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.

Epidemiology
Nine cases have been reported in the literature so far.

Clinical description
Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant.

Etiology
It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait.

Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations.

Prognosis
Prognosis is poor; the syndrome is almost always lethal soon after birth.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2010

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
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplastic clavicle
Absent collarbone
0006660
Cleft palate
Cleft roof of mouth
0000175
Decreased skull ossification
Decreased bone formation of skull
0004331
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
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplastic scapulae
Small shoulder blade
0000882
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Low-set, posteriorly rotated ears 0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
30%-79% of people have these symptoms
Abnormally ossified vertebrae
Abnormal bone maturation of vertebra
0100569
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Finger syndactyly 0006101
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Short distal phalanx of finger
Short outermost finger bone
0009882
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the corpus callosum 0007370
Hypoplasia of penis
Underdeveloped penis
0008736
Ventriculomegaly 0002119
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Last updated: 7/1/2020

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

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 Crane-Heise syndrome. Click on the link to view a sample search on this topic.

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