Genetic Medicine conditions, page 2 of 5
20 conditions on this page, alphabetically from COACH syndrome to Loeys-Dietz syndrome. Each entry below describes the condition in full.
On this page
COACH syndrome
Overview. A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). Weyland-Yutani Health System offers diagnosis and ongoing care for COACH syndrome.
Also known as
- cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
- Gentile syndrome
- Joubert syndrome with congenital hepatic fibrosis
- Joubert syndrome with hepatic defect
- JS-H
Classification
Ontology identifier: DOID:0111589 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C536430
- OMIM: 216360
- SNOMED CT: 721847002
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, COACH 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
Questions about COACH syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Coffin-Lowry syndrome
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. Our Genetic Medicine team evaluates and manages Coffin-Lowry syndrome.
Classification
Ontology identifier: DOID:3783 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › X-linked monogenic disease › X-linked dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D038921
- OMIM: 303600
- SNOMED CT: 15182000
Care at Weyland-Yutani Health System
Care for Coffin-Lowry 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
Seek a medical evaluation if you are concerned about Coffin-Lowry syndrome. Bring a list of current medications and any previous test results.
Reference links
Cohen syndrome
Cohen syndrome: A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.
Also known as
- COH1
- Hypotonia, obesity, and prominent incisors
- Pepper syndrome
Classification
Ontology identifier: DOID:0111590 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C536438
- OMIM: 216550
- SNOMED CT: 56604005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Cohen 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
Questions about Cohen syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Cowden syndrome 1
In clinical terms, Cowden syndrome 1 is described as follows: A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
Also known as
- PHTS
- PTEN hamartoma tumor syndrome
- PTEN hamartoma tumour syndrome
Classification
Ontology identifier: DOID:0050657 (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: Q85.81
- MeSH: D006223
- MeSH: D016715
- OMIM: 158350
- SNOMED CT: 67944007
- SNOMED CT: 716862002
- SNOMED CT: 722859001
- SNOMED CT: 763867001
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Cowden syndrome 1. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have Cowden syndrome 1, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Craniofaciocardiohepatic syndrome
In clinical terms, craniofaciocardiohepatic syndrome is described as follows: A syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that has_material_basis_in heterozygous mutation in the AMOTL1 gene on chromosome 11q21.
Also known as
Classification
Ontology identifier: DOID:0070791 (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: Q87.0
- OMIM: 621192
Care at Weyland-Yutani Health System
Treatment of craniofaciocardiohepatic syndrome 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
Questions about craniofaciocardiohepatic syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Edwards syndrome
Edwards syndrome: A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
Also known as
- Complete trisomy 18 syndrome
- E3 Trisomy
- trisomy 18
Classification
Ontology identifier: DOID:1085 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal duplication syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-9-CM: 758.2
- MeSH: D000073842
- SNOMED CT: 51500006
Care at Weyland-Yutani Health System
Treatment of Edwards 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 Edwards syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Feingold syndrome
A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Our Genetic Medicine team evaluates and manages Feingold syndrome.
Also known as
- digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
- FGLDS
- microcephaly-digital anomalies-normal intelligence syndrome
- microcephaly-oculo-digito-esophageal-duodenal syndrome
- MODED syndrome
- oculo-digito-esophageal-duodenal syndrome
- ODED syndrome
Classification
Ontology identifier: DOID:0060464 (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: Q87.8
- MeSH: C537734
- OMIM: 164280
- OMIM: 614326
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Feingold syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have Feingold syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Fragile X syndrome
Overview. A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. Weyland-Yutani Health System offers diagnosis and ongoing care for fragile X syndrome.
Also known as
- FRAGILE X MENTAL RETARDATION SYNDROME
- MARKER X SYNDROME
- MARTIN-BELL SYNDROME
Classification
Ontology identifier: DOID:14261 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › X-linked monogenic disease › X-linked dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q99.2
- ICD-9-CM: 759.83
- MeSH: D005600
- OMIM: 300624
- SNOMED CT: 390007001
Care at Weyland-Yutani Health System
Treatment of fragile X 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 fragile X syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Genetic disease
In clinical terms, genetic disease is described as follows: A disease that has_material_basis_in genetic variations in the human genome.
Classification
Ontology identifier: DOID:630 (Human Disease Ontology).
Specialty: Genetic Medicine
More specific conditions
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Medical codes
- MeSH: D030342
- SNOMED CT: 32895009
Care at Weyland-Yutani Health System
Treatment of genetic disease 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
Seek a medical evaluation if you are concerned about genetic disease. Bring a list of current medications and any previous test results.
Reference links
Gillespie syndrome
A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. This page summarizes how Gillespie syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- aniridia, cerebellar ataxia and mental deficiency
- aniridia-cerebellar ataxia-intellectual disability syndrome
- GLSP
Classification
Ontology identifier: DOID:0111578 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C536370
- OMIM: 206700
- SNOMED CT: 253176002
Care at Weyland-Yutani Health System
Treatment of Gillespie syndrome 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 Gillespie syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Goldberg-Shprintzen syndrome
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. Patients with Goldberg-Shprintzen syndrome are cared for through our Genetic Medicine service line.
Also known as
- Goldberg-Shprintzen megacolon syndrome
Classification
Ontology identifier: DOID:0060481 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C537279
- OMIM: 609460
- SNOMED CT: 717822006
Care at Weyland-Yutani Health System
Care for Goldberg-Shprintzen 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
If you or a family member may have Goldberg-Shprintzen syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Hereditary breast ovarian cancer syndrome
A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. Patients with hereditary breast ovarian cancer syndrome are cared for through our Genetic Medicine service line.
Also known as
- BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
- Breast and Ovarian Cancer syndrome
- HBOC syndrome
- Hereditary breast and ovarian cancer
- Hereditary Breast and Ovarian Cancer syndrome
Classification
Ontology identifier: DOID:5683 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D061325
- SNOMED CT: 718220008
Care at Weyland-Yutani Health System
Treatment of hereditary breast ovarian cancer syndrome 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
Seek a medical evaluation if you are concerned about hereditary breast ovarian cancer syndrome. Bring a list of current medications and any previous test results.
Reference links
Hermansky-Pudlak syndrome
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. Our Genetic Medicine team evaluates and manages Hermansky-Pudlak syndrome.
Classification
Ontology identifier: DOID:3753 (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: E70.331
- MeSH: D022861
- OMIM: PS203300
- SNOMED CT: 60255003
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Hermansky-Pudlak 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
Seek a medical evaluation if you are concerned about Hermansky-Pudlak syndrome. Bring a list of current medications and any previous test results.
Reference links
Hydrolethalus syndrome
hydrolethalus syndrome: A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Also known as
- Salonen-Herva-Norio syndrome
Classification
Ontology identifier: DOID:0050779 (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: Q87.8
- MeSH: C536079
- OMIM: PS236680
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, hydrolethalus 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
Seek a medical evaluation if you are concerned about hydrolethalus syndrome. Bring a list of current medications and any previous test results.
Reference links
Hypoparathyroidism-retardation-dysmorphism syndrome
A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. This page summarizes how hypoparathyroidism-retardation-dysmorphism syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- HRD syndrome
- hypoparathyroidism with short stature, mental retardation and seizures
- Sanjad-Sakati syndrome
Classification
Ontology identifier: DOID:0060348 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C537157
- OMIM: 241410
- SNOMED CT: 1197148005
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for hypoparathyroidism-retardation-dysmorphism syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about hypoparathyroidism-retardation-dysmorphism syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Jackson-Weiss syndrome
Jackson-Weiss syndrome: A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
Also known as
- craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
- JWS
Classification
Ontology identifier: DOID:0111337 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C537559
- OMIM: 123150
- SNOMED CT: 709105005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Jackson-Weiss 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 Jackson-Weiss syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Johanson-Blizzard syndrome
A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. This page summarizes how Johanson-Blizzard syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:14694 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C535880
- OMIM: 243800
- SNOMED CT: 75979009
Care at Weyland-Yutani Health System
Care for Johanson-Blizzard 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 Johanson-Blizzard syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Laurence-Moon syndrome
Overview. A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. Weyland-Yutani Health System offers diagnosis and ongoing care for Laurence-Moon syndrome.
Also known as
Classification
Ontology identifier: DOID:1930 (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: Q87.84
- MeSH: D007849
- OMIM: 245800
- SNOMED CT: 232059000
Care at Weyland-Yutani Health System
Treatment of Laurence-Moon syndrome 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 Laurence-Moon syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Lenz-Majewski hyperostotic dwarfism
In clinical terms, Lenz-Majewski hyperostotic dwarfism is described as follows: A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
Also known as
Classification
Ontology identifier: DOID:0111507 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C537115
- OMIM: 151050
- SNOMED CT: 1393001
Care at Weyland-Yutani Health System
Care for Lenz-Majewski hyperostotic dwarfism 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
If you or a family member may have Lenz-Majewski hyperostotic dwarfism, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Loeys-Dietz syndrome
A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. Our Genetic Medicine team evaluates and manages Loeys-Dietz syndrome.
Classification
Ontology identifier: DOID:0050466 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D055947
- SNOMED CT: 446263001
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Loeys-Dietz 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
Questions about Loeys-Dietz syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links