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Disease Profile
Short rib-polydactyly syndrome type 4
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 4; Short rib-polydactyly syndrome type IV; Beemer Langer syndrome;
Categories
Congenital and Genetic Diseases; Lung Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 93268
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Anencephaly | 0002323 | |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Atelectasis |
Partial or complete collapse of part or entire lung
|
0100750 |
0000007 | ||
Bowing of the arm |
Bending of the arm
|
0006488 |
Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ] |
0002979 |
Short fingers or toes
|
0001156 | |
Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Cystic renal dysplasia | 0000800 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flat face |
Flat facial shape
|
0012368 |
Hamartoma of tongue | 0011802 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
High forehead | 0000348 | |
Holoprosencephaly | 0001360 | |
Horizontal ribs | 0000888 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplastic nipples |
Small nipples
|
0002557 |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Inguinal hernia | 0000023 | |
Intestinal malrotation | 0002566 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Lobulated tongue |
Bumpy tongue
|
0000180 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ] |
0008501 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
Neonatal death |
Neonatal lethal
|
0003811 |
Omphalocele | 0001539 | |
Patent ductus arteriosus | 0001643 | |
Patent foramen ovale | 0001655 | |
Periportal fibrosis | 0001405 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Short finger |
Stubby finger
|
0009381 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short long bone |
Long bone shortening
|
0003026 |
Short neck |
Decreased length of neck
|
0000470 |
Short palm | 0004279 | |
Short ribs | 0000773 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thoracic dysplasia | 0006644 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
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 4. Click on the link to view a sample search on this topic.