DCHS1 gene related symptoms and diseases

Alternate names

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1, barlow syndrome, pmv, mmvp1, floppy mitral valve, myxomatous valvular disease, familial, mitral regurgitation, familial, mvp prolapsed mitral valve, mitral valve prolapse, myxomatous 1, click-murmur syndrome, mitral valve prolaps

Description

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

Most common symptoms of FAMILIAL MITRAL VALVE PROLAPSE

• Intellectual disability
• Short stature
• Growth delay
• Micrognathia
• Pain

SOURCES: OMIM ORPHANET

Alternate names

CEREBROFACIOARTICULAR SYNDROME Is also known as cerebrofacioarticular syndrome, van maldergem syndrome

Description

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

Most common symptoms of CEREBROFACIOARTICULAR SYNDROME

• Intellectual disability
• Seizures
• Generalized hypotonia
• Hearing impairment
• Scoliosis

SOURCES: OMIM ORPHANET

Alternate names

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive, periventricular nodular heterotopia 2, pvnh2

Most common symptoms of PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MESH

Alternate names

MITRAL VALVE PROLAPSE 2; MVP2 Is also known as myxomatous mitral valve prolapse 2, mitral valve prolapse, myxomatous 2, mmvp2

Description

Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (OMIM ).

Most common symptoms of MITRAL VALVE PROLAPSE 2; MVP2

• Congestive heart failure
• Mitral valve prolapse
• Mitral regurgitation

SOURCES: MESH OMIM