Acrofacial dysostosis Catania type

Title

Other Names:

AFD Catania type; ACD; Opitz Mollica Sorge syndrome

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary

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

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

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 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 V-shaped frontal hairline [ more ]	0000349

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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

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.

Learn More Learn More

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.

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