Genetic Medicine conditions, page 1 of 5
20 conditions on this page, alphabetically from Acrorenal syndrome to Chromosome 5p13 duplication syndrome. Each entry below describes the condition in full.
On this page
Acrorenal syndrome
Overview. A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. Weyland-Yutani Health System offers diagnosis and ongoing care for acrorenal syndrome.
Classification
Ontology identifier: DOID:0060347 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C563159
- OMIM: 102520
- OMIM: 201310
- SNOMED CT: 720458005
Care at Weyland-Yutani Health System
Treatment of acrorenal syndrome begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about acrorenal syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Aicardi-Goutieres syndrome
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. This page summarizes how Aicardi-Goutieres syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- AGS
- Cree encephalitis
- pseudotoxoplasmosis syndrome
Classification
Ontology identifier: DOID:0050629 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: G31.8
- OMIM: PS225750
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Aicardi-Goutieres syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Aicardi-Goutieres syndrome. Bring a list of current medications and any previous test results.
Reference links
Bardet-Biedl syndrome
Overview. A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa, vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. Weyland-Yutani Health System offers diagnosis and ongoing care for Bardet-Biedl syndrome.
Classification
Ontology identifier: DOID:1935 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q87.83
- MeSH: D020788
- OMIM: PS209900
- SNOMED CT: 5619004
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Bardet-Biedl syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Bardet-Biedl syndrome. Bring a list of current medications and any previous test results.
Reference links
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 15: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.
Also known as
Classification
Ontology identifier: DOID:0110137 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Bardet-Biedl syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.89
- OMIM: 615992
Care at Weyland-Yutani Health System
Care for Bardet-Biedl syndrome 15 is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Bardet-Biedl syndrome 15. Bring a list of current medications and any previous test results.
Reference links
Bardet-Biedl syndrome 16
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. Patients with Bardet-Biedl syndrome 16 are cared for through our Genetic Medicine service line.
Also known as
Classification
Ontology identifier: DOID:0110138 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Bardet-Biedl syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.89
- OMIM: 615993
Care at Weyland-Yutani Health System
Care for Bardet-Biedl syndrome 16 is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about Bardet-Biedl syndrome 16? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 17: A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.
Also known as
Classification
Ontology identifier: DOID:0110139 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Bardet-Biedl syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.89
- OMIM: 615994
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Bardet-Biedl syndrome 17. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about Bardet-Biedl syndrome 17? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 6: A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.
Also known as
Classification
Ontology identifier: DOID:0110128 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Bardet-Biedl syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.89
- MeSH: C565738
- OMIM: 605231
Care at Weyland-Yutani Health System
Treatment of Bardet-Biedl syndrome 6 begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have Bardet-Biedl syndrome 6, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Bardet-Biedl syndrome 9
A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. This page summarizes how Bardet-Biedl syndrome 9 is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:0110131 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Bardet-Biedl syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.89
- MeSH: C565918
- OMIM: 615986
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Bardet-Biedl syndrome 9. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about Bardet-Biedl syndrome 9. Bring a list of current medications and any previous test results.
Reference links
Branchiootorenal syndrome
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. This page summarizes how branchiootorenal syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- Branchio-Oto-renal syndrome
- Branchio-otorenal dysplasia
- branchiootorenal dysplasia
- Melnick-Fraser syndrome
Classification
Ontology identifier: DOID:14702 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D019280
- SNOMED CT: 290006
Care at Weyland-Yutani Health System
Care for branchiootorenal syndrome is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about branchiootorenal syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Cartilage-hair hypoplasia
cartilage-hair hypoplasia: An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
Also known as
- CHH
- McKusick type metaphyseal chondrodysplasia
- Metaphyseal chondrodysplasia, McKusick type
Classification
Ontology identifier: DOID:14773 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C535916
- OMIM: 250250
- SNOMED CT: 234421004
Care at Weyland-Yutani Health System
Care for cartilage-hair hypoplasia is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about cartilage-hair hypoplasia. Bring a list of current medications and any previous test results.
Reference links
Chediak-Higashi syndrome
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. Patients with Chediak-Higashi syndrome are cared for through our Genetic Medicine service line.
Also known as
- Chediak - Steinbrinck anomaly
- CHS
Classification
Ontology identifier: DOID:2935 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: E70.330
- MeSH: D002609
- OMIM: 214500
- SNOMED CT: 111396008
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Chediak-Higashi syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have Chediak-Higashi syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Chondrodysplasia punctata
chondrodysplasia punctata: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Also known as
- Chondrodysplasia punctata congenita
Classification
Ontology identifier: DOID:2581 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q77.3
- MeSH: D002806
- OMIM: 215105
- SNOMED CT: 205486004
Care at Weyland-Yutani Health System
Care for chondrodysplasia punctata is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about chondrodysplasia punctata. Bring a list of current medications and any previous test results.
Reference links
Chromosome 11 partial duplication syndrome
Overview. A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. Weyland-Yutani Health System offers diagnosis and ongoing care for chromosome 11 partial duplication syndrome.
Also known as
- partial duplication of chromosome 11
- partial trisomy 11
Classification
Ontology identifier: DOID:0070614 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal duplication syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
Care at Weyland-Yutani Health System
Treatment of chromosome 11 partial duplication syndrome begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about chromosome 11 partial duplication syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Chromosome 13q14 deletion syndrome
A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. Our Genetic Medicine team evaluates and manages chromosome 13q14 deletion syndrome.
Also known as
Classification
Ontology identifier: DOID:0060391 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q93.5
- OMIM: 613884
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, chromosome 13q14 deletion syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about chromosome 13q14 deletion syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Chromosome 15q26-qter deletion syndrome
chromosome 15q26-qter deletion syndrome: A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
Also known as
- 15q26 deletion syndrome
- distal 15q deletion syndrome
- distal monosomy 15q
- Drayer syndrome
- telomeric 15q deletion syndrome
Classification
Ontology identifier: DOID:0060397 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal deletion syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q93.5
- MeSH: C567232
- OMIM: 612626
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for chromosome 15q26-qter deletion syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about chromosome 15q26-qter deletion syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Chromosome 16p11.2 duplication syndrome
In clinical terms, chromosome 16p11.2 duplication syndrome is described as follows: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
Also known as
- proximal 16p11.2 microduplication syndrome
- proximal dup(16)(p11.2)
- proximal trisomy 16p11.2
Classification
Ontology identifier: DOID:0060430 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal duplication syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q92.3
- OMIM: 614671
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for chromosome 16p11.2 duplication syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about chromosome 16p11.2 duplication syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Chromosome 17q21.31 duplication syndrome
Overview. A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. Weyland-Yutani Health System offers diagnosis and ongoing care for chromosome 17q21.31 duplication syndrome.
Also known as
- 17q21.31 microduplication syndrome
- trisomy 17q21.31
Classification
Ontology identifier: DOID:0060434 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal duplication syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q92.3
- OMIM: 613533
Care at Weyland-Yutani Health System
Treatment of chromosome 17q21.31 duplication syndrome begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have chromosome 17q21.31 duplication syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Chromosome 18q deletion syndrome
chromosome 18q deletion syndrome: A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
Also known as
- 18q- syndrome
- deletion 18q
- monosomy 18q
Classification
Ontology identifier: DOID:0060407 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q93.5
- MeSH: C536580
- OMIM: 601808
Care at Weyland-Yutani Health System
Treatment of chromosome 18q deletion syndrome begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about chromosome 18q deletion syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Chromosome 2q37 deletion syndrome
Overview. A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. Weyland-Yutani Health System offers diagnosis and ongoing care for chromosome 2q37 deletion syndrome.
Also known as
- 2q37 microdeletion syndrome
- Albright hereditary osteodystrophy type 3
- Albright hereditary osteodystrophy-like syndrome
- Albright's hereditary osteodystrophy-like syndrome
- BDMR
- Brachydactyly-intellectual disability syndrome
- Del(2)(q37)
- deletion 2q37
- monosomy 2q37qter
Classification
Ontology identifier: DOID:0111704 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal deletion syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C538317
- OMIM: 600430
- SNOMED CT: 702357000
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, chromosome 2q37 deletion syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about chromosome 2q37 deletion syndrome. Bring a list of current medications and any previous test results.
Reference links
Chromosome 5p13 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. Our Genetic Medicine team evaluates and manages chromosome 5p13 duplication syndrome.
Also known as
- 5p13 microduplication syndrome
- trisomy 5p13
Classification
Ontology identifier: DOID:0060460 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal duplication syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q92.3
- MeSH: C567717
- OMIM: 613174
Care at Weyland-Yutani Health System
Treatment of chromosome 5p13 duplication syndrome begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have chromosome 5p13 duplication syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links