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Disease Profile

Schinzel type phocomelia

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

Infancy

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ICD-10

Q87.2

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)

AARRS; Ulna and fibula absence of with severe limb deficiency; Schinzel phocomelia syndrome;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures (genitalia). Females with this syndrome may have an absent uterus, and males may have undescended testes (cryptorchidism).[1][2]

Al-Awadi-Raas-Rothschild syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Al-Awadi-Raas-Rothschild syndrome depends on the specific symptoms of each affected person, but may include surgical options.[1][2]

Al-Awadi-Raas-Rothschild syndrome is very similar to another syndrome known as Fuhrmann syndrome. The symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome.[3]

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
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone

[ more ]

0002992
Aplasia of the ulna
0003982
Aplasia/Hypoplasia involving the pelvis
0009103
Aplasia/hypoplasia of the femur
Absent/small thighbone
Absent/underdeveloped thighbone

[ more ]

0005613
Aplasia/Hypoplasia of the sacrum
Absent/small sacrum
Absent/underdeveloped sacrum

[ more ]

0008517
Disproportionate short stature
0003498
Ectrodactyly
Cleft hand
Lobster claw hand

[ more ]

0100257
Fibular aplasia
Absent calf bone
0002990
Foot oligodactyly
Missing toes
0001849
Hand oligodactyly
Hand has less than 5 fingers
0001180
Micromelia
Smaller or shorter than typical limbs
0002983
Nail dysplasia
Atypical nail growth
0002164
Short foot
Short feet
Small feet

[ more ]

0001773
30%-79% of people have these symptoms
Aplasia of the uterus
uterus absent
Absent uterus

[ more ]

0000151
Aplasia/Hypoplasia involving the carpal bones
Absent/small wrist bones
Absent/underdeveloped wrist bones

[ more ]

0006502
Aplasia/Hypoplasia involving the metacarpal bones
Absent/small long bones of hand
Absent/underdeveloped long bones of hand

[ more ]

0005914
Aplasia/Hypoplasia of metatarsal bones
Absent/small long bone of foot
Absent/underdeveloped long bone of foot

[ more ]

0001964
Aplasia/Hypoplasia of the phalanges of the hand
0009767
Aplasia/Hypoplasia of the phalanges of the toes
Absent/small toe bones
Absent/underdeveloped toe bones

[ more ]

0010173
Aplasia/Hypoplasia of the pubic bone
Absent/small pubic bones
Absent/underdeveloped pubic bones
Hypoplastic/aplastic pubic bones

[ more ]

0009104
Aplasia/Hypoplasia of the tarsal bones
Absent/small ankle bone
Absent/underdeveloped ankle bone

[ more ]

0008363
Elbow ankylosis
0003070
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

0002987
Femoral bowing
Bowed thighbone
0002980
Humeroradial synostosis
Fusion of upper and lower arm bones
0003041
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Phocomelia
0009829
Radial bowing
Bowing of outer large bone of the forearm
0002986
Short neck
Decreased length of neck
0000470
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171
5%-29% of people have these symptoms
Anal atresia
Absent anus
0002023
Calvarial skull defect
Cranial defect
Skull defect

[ more ]

0001362
Cleft palate
Cleft roof of mouth
0000175
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Hydrops fetalis
0001789
Hypoplasia of penis
Underdeveloped penis
0008736
Meningocele
0002435
Occipital meningocele
0002436
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Talipes
0001883
Tracheoesophageal fistula
0002575
1%-4% of people have these symptoms
Anteriorly displaced genitalia
0003252
Barrel-shaped chest
Barrel chest
0001552
Broad clavicles
Broad collarbone
0000916
Broad neck
Increased width of neck
Wide neck

[ more ]

0000475
Broad ribs
Wide ribs
0000885
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Prominent sternum
0000884
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Percent of people who have these symptoms is not available through HPO
Anonychia
Absent nails
Aplastic nails

[ more ]

0001798
Aplastic pubic bones
Absent pubic bones
0008817
Autosomal recessive inheritance

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      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 Schinzel type phocomelia. Click on the link to view a sample search on this topic.

        References

        1. Ulna and fibula, absence of, with severe limb deficiency. Online Mendelian Inheritance in Man. September 19, 2016; https://www.omim.org/entry/276820.
        2. Phocomelia, Schinzel type. Orphanet. July 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879.
        3. Al-Qattan MM. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.. American Journal of Medical Genetics. September 2013; 161A(9):2274-2280. https://www.ncbi.nlm.nih.gov/pubmed/23922166.

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