MedGen

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016). For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620). [from OMIM]

Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016). [from OMIM]

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). [from OMIM]

Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [from HPO]

Frontometaphyseal dysplasia-1 (FMD1) is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' Genetic Heterogeneity of Frontometaphyseal Dysplasia Frontometaphyseal dysplasia-2 (FMD2; 617137) is caused by mutation in the MAP3K7 gene (602614) on chromosome 6q15. [from OMIM]

A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. [from MONDO]

Any structural abnormality of a cardiac valve. [from HPO]

A mild delay in the achievement of motor or mental milestones in the domains of development of a child. [from HPO]

An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1. [from NCI]

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. [from MONDO]

A congenital malformation of the pulmonary valve characterized by leaflet deformation. [from HPO]

Recurrent infections at an early age with improvement in later childhood. [from HPO]

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. [from HPO]

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

Failure to meet, or late achievement of developmental milestones. [from NCI]

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [from HPO]

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [from HPO]