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  3. Acrofacial dysostosis Rodriguez type
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Acrofacial dysostosis Rodriguez type


Title


Other Names:
Rodriguez lethal acrofacial dysostosis syndrome
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary


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

Orpha Number: 1788

Definition
A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2005

Symptoms Symptoms


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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.

Showing of 43 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hand oligodactyly
Hand has less than 5 fingers
0001180
Malar flattening
Zygomatic flattening
0000272
Microretrognathia
Small retruded chin
0000308
Microtia
Small ears
Underdeveloped ears
[ more ]
0008551
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
0000426
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Aplasia/Hypoplasia of the radius 0006501
Aplasia/Hypoplasia of the ulna
Absence/underdevelopment of inner forearm bone
0006495
Aqueductal stenosis 0002410
Arrhinencephaly 0002139
Fibular hypoplasia
Short calf bone
0003038
Radioulnar synostosis
Fused forearm bones
0002974
Sprengel anomaly
High shoulder blade
0000912
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies 0003312
Abnormality of the uterus
Uterine abnormalities
Uterine malformations
[ more ]
0000130
Finger syndactyly 0006101
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
0008678
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs 0000878
Absent forearm 0005632
Autosomal recessive inheritance 0000007
Clinodactyly
Permanent curving of the finger
0030084
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
0000490
Deep-set nails 0001814
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Narrow mouth
Small mouth
0000160
Oligodactyly 0012165
Overlapping toe
Overlapping toes
Overriding toes
[ more ]
0001845
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
0000448
Short philtrum 0000322
Short stature
Decreased body height
Small stature
[ more ]
0004322
Short tibia
Short shinbone
Short skankbone
[ more ]
0005736
Single transverse palmar crease 0000954
Thin skin 0000963
Triphalangeal thumb
Finger-like thumb
0001199
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
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
Showing of 43 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More Learn More


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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 Acrofacial dysostosis Rodriguez type. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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