MedGen

Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013). [from OMIM]

Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by shortening of the middle phalanges of the digits of the hand, with or without symphalangism. Mild short stature is often present. Considerable inter- and intrafamilial variability has been observed, with all or only some digits affected, and complete absence of the middle phalanx in some cases. Metacarpals may also be shortened, and clinodactyly, camptodactyly, and ulnar deviation have been reported. Some patients exhibit abnormalities of the feet (Zhu et al., 2007; Lodder et al., 2008; Byrnes et al., 2009; Vasques et al., 2018). Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22. [from OMIM]

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267). [from OMIM]

Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007). [from OMIM]

Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146). [from OMIM]

Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014). [from OMIM]

The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia. [from OMIM]

A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. [from MONDO]