Short rib-polydactyly syndrome type 3

Title

Other Names:

SRPS type 3; Short rib-polydactyly syndrome type III; Polydactyly with neonatal chondrodystrophy type III; SRPS type 3; Short rib-polydactyly syndrome type III; Polydactyly with neonatal chondrodystrophy type III; Verma Naumoff syndrome; Short rib polydactyly syndrome Verma Naumoff type See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Musculoskeletal Diseases See More

Summary Summary

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

Orpha Number: 93271

Disease definition

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2015

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
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Abnormal pelvis bone ossification		0009106
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Disproportionate short-limb short stature	Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ]	0008873
Lethal skeletal dysplasia	Lethal dwarfism identifiable at birth	0005716
Micromelia		0002983
Narrow chest	Low chest circumference Narrow shoulders [ more ]	0000774
Respiratory insufficiency	Respiratory impairment	0002093
Short foot	Short feet Small feet [ more ]	0001773
Short palm		0004279
Short ribs		0000773
Short thorax		0010306
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Absent or minimally ossified vertebral bodies		0004599
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Cleft upper lip	Harelip	0000204
Congenital hepatic fibrosis		0002612
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
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
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Frontal bossing		0002007
Hydronephrosis		0000126
Hydrops fetalis		0001789
Hypoplasia of penis	Underdeveloped penis	0008736
Long philtrum		0000343
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Renal hypoplasia	Small kidneys Underdeveloped kidneys [ more ]	0000089
Urethrovaginal fistula		0008716
Uterus didelphys		0003762
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
5%-29% of people have these symptoms
Agenesis of corpus callosum		0001274
Anal atresia	Absent anus	0002023
Bifid epiglottis		0010564
Bifid tongue	Cleft tongue Forked tongue Split tongue [ more ]	0010297
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Dandy-Walker malformation		0001305
Ectopic anus	Abnormal anus position	0004397
Esophageal atresia		0002032
Facial cleft	Cleft of the face	0002006
Omphalocele		0001539
Preaxial hand polydactyly	Extra thumb	0001177
Pulmonary hypoplasia	Small lung Underdeveloped lung [ more ]	0002089
Renal cyst		0000107

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/7/2018

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 Short rib-polydactyly syndrome type 3. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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