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Disease Profile
Short rib-polydactyly syndrome type 3
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Antenatal
ICD-10
Q77.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SRPS type 3; Short rib-polydactyly syndrome type III; Polydactyly with neonatal chondrodystrophy type III;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 93271
Definition
Short ribpolydactyly 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.
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.
| 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 limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
| Lethal skeletal dysplasia |
Lethal dwarfism identifiable at birth
|
0005716 |
| Micromelia |
Smaller or shorter than typical limbs
|
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 |
Shorter than typical length between neck and abdomen
|
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 |
|
Excessive buildup of connective tissue and scarring of liver at birth
|
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 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Postaxial hand |
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 |
0001274 | |
| Anal atresia |
Absent anus
|
0002023 |
| Bifid epiglottis | 0010564 | |
| Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ] |
0010297 |
|
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 |
Birth defect in which part of esophagus did not develop
|
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 |
Kidney cyst
|
0000107 |
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.