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Acrofacial dysostosis Catania type


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Other Names:
AFD Catania type; ACD; Opitz Mollica Sorge 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: 1786

Definition
A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2015

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 37 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
0000174
Brachydactyly
Short fingers or toes
0001156
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Finger syndactyly 0006101
High forehead 0000348
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
0010669
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Microretrognathia
Small retruded chin
0000308
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Short palm 0004279
Short stature
Decreased body height
Small stature
[ more ]
0004322
Small hand
Disproportionately small hands
0200055
Smooth philtrum 0000319
30%-79% of people have these symptoms
Abnormal hair pattern
Abnormal distribution of hair
0010720
Bilateral single transverse palmar creases 0007598
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Feeding difficulties in infancy 0008872
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Low-set, posteriorly rotated ears 0000368
Preauricular pit
Pit in front of the ear
0004467
5%-29% of people have these symptoms
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Coarse hair
Coarse hair texture
0002208
Facial cleft
Cleft of the face
0002006
Hypospadias 0000047
Inguinal hernia 0000023
Pectus excavatum
Funnel chest
0000767
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ]
0001622
Reduced number of teeth
Decreased tooth count
0009804
Spina bifida occulta 0003298
Webbed neck
Neck webbing
0000465
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Mandibulofacial dysostosis 0005321
Single transverse palmar crease 0000954
Widow's peak
Hairline peak
Hairline point
Pointed hairline at front of head
V-shaped frontal hairline
[ more ]
0000349
Showing of 37 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
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 MedlinePlus Genetics.

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 Catania type. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

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.
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You can help advance rare disease research!
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