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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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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 stature
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
Congenital hepatic fibrosis
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
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
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.