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

Rozin Hertz Goodman syndrome


Other Names:
Camptodactyly, joint contractures, facial skeletal defects; Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1323

Definition
Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).

Epidemiology
Only four cases have been reported in the literature so far.

Genetic counseling
The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2007

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
Abnormality of the hip bone
Abnormality of the hips
0003272
Asymmetric growth
Uneven or disproportionate growth of one body part compared to another
0100555
Biparietal narrowing 0004422
Camptodactyly of finger
Permanent flexion of the finger
0100490
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Finger syndactyly 0006101
High forehead 0000348
Hyperlordosis
Prominent swayback
0003307
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Low posterior hairline
Low hairline at back of neck
0002162
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Narrow mouth
Small mouth
0000160
Narrow palate
Narrow roof of mouth
0000189
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Synostosis of carpal bones
Fusion of wrist bones
0005048
Vertebral segmentation defect 0003422
30%-79% of people have these symptoms
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
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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 Rozin Hertz Goodman syndrome. Click on the link to view a sample search on this topic.

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