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Disease Profile

Short rib-polydactyly syndrome type 4

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 4; Short rib-polydactyly syndrome type IV; Beemer Langer syndrome;

Categories

Congenital and Genetic Diseases; Lung Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 93268

Definition
Short ribpolydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely preand post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

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
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
Autosomal recessive inheritance
0000007
Bowing of the arm
Bending of the arm
0006488
Bowing of the legs
Bowed legs
Bowed lower limbs

[ more ]

0002979
Brachydactyly
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
Hydrocephalus
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 cleft lip and palate
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.