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

Rhizomelic syndrome



Other Names:
Familial rhizomelic dysplasia; Rhizomelic dysplasia, familial
Categories:
Subtypes:
Rhizomelic chondrodysplasia punctata type 3

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

Orpha Number: 3098

Definition
Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2018

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
Abnormal form of the vertebral bodies 0003312
Abnormal hair quantity 0011362
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the elbow
Abnormality of the elbows
0009811
Abnormality of the humerus 0003063
Abnormality of the knee 0002815
Abnormality of the tongue
Abnormal tongue
Tongue abnormality
[ more ]
0000157
Acne 0001061
Brachydactyly
Short fingers or toes
0001156
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
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
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ]
0002827
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
0001376
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Preaxial hand polydactyly
Extra thumb
0001177
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short distal phalanx of finger
Short outermost finger bone
0009882
Short neck
Decreased length of neck
0000470
Triphalangeal thumb
Finger-like thumb
0001199
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
30%-79% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Kyphosis
Hunched back
Round back
[ more ]
0002808
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bifid distal phalanx of the thumb
Notched outermost bone of the thumb
0009611
Complete duplication of thumb phalanx
Complete duplication of thumb bones
0009943
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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 Rhizomelic syndrome. Click on the link to view a sample search on this topic.

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