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: 7/10/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abdominal distention	Very frequent (present in 80%-99% of cases)
Abnormal pelvis bone ossification	Very frequent (present in 80%-99% of cases)
Abnormality of the metaphysis	Very frequent (present in 80%-99% of cases)
Disproportionate short-limb short stature	Very frequent (present in 80%-99% of cases)
Lethal skeletal dysplasia	Very frequent (present in 80%-99% of cases)
Micromelia	Very frequent (present in 80%-99% of cases)
Narrow chest	Very frequent (present in 80%-99% of cases)
Respiratory insufficiency	Very frequent (present in 80%-99% of cases)
Short foot	Very frequent (present in 80%-99% of cases)
Short palm	Very frequent (present in 80%-99% of cases)
Short ribs	Very frequent (present in 80%-99% of cases)
Short thorax	Very frequent (present in 80%-99% of cases)
Abnormality of cardiovascular system morphology	Frequent (present in 30%-79% of cases)
Absent or minimally ossified vertebral bodies	Frequent (present in 30%-79% of cases)
Cleft upper lip	Frequent (present in 30%-79% of cases)
Congenital hepatic fibrosis	Frequent (present in 30%-79% of cases)
Cryptorchidism	Frequent (present in 30%-79% of cases)
Epicanthus	Frequent (present in 30%-79% of cases)
Frontal bossing	Frequent (present in 30%-79% of cases)
Hydronephrosis	Frequent (present in 30%-79% of cases)
Hydrops fetalis	Frequent (present in 30%-79% of cases)
Hypoplasia of penis	Frequent (present in 30%-79% of cases)
Long philtrum	Frequent (present in 30%-79% of cases)
Macrocephaly	Frequent (present in 30%-79% of cases)
Micrognathia	Frequent (present in 30%-79% of cases)
Postaxial hand polydactyly	Frequent (present in 30%-79% of cases)
Renal hypoplasia	Frequent (present in 30%-79% of cases)
Urethrovaginal fistula	Frequent (present in 30%-79% of cases)
Uterus didelphys	Frequent (present in 30%-79% of cases)
Wide nose	Frequent (present in 30%-79% of cases)
Agenesis of corpus callosum	Occasional (present in 5%-29% of cases)
Anal atresia	Occasional (present in 5%-29% of cases)
Bifid epiglottis	Occasional (present in 5%-29% of cases)
Bifid tongue	Occasional (present in 5%-29% of cases)
Cataract	Occasional (present in 5%-29% of cases)
Cerebellar hypoplasia	Occasional (present in 5%-29% of cases)
Dandy-Walker malformation	Occasional (present in 5%-29% of cases)
Ectopic anus	Occasional (present in 5%-29% of cases)
Esophageal atresia	Occasional (present in 5%-29% of cases)
Facial cleft	Occasional (present in 5%-29% of cases)
Omphalocele	Occasional (present in 5%-29% of cases)
Pulmonary hypoplasia	Occasional (present in 5%-29% of cases)
Renal cyst	Occasional (present in 5%-29% of cases)

Last updated: 9/1/2017

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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